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Gene Report
Basic information | Related studies | Functional annotation | Related other genetic factors | Overlap with SZ and MDD | ADD to My Gene Set | Comment on Gene | View All Comments on Gene |
Approved Symbol | DISC1 |
---|---|
Approved Name | disrupted in schizophrenia 1 |
Location | 1q42.1 |
Position | chr1:231626815-232041272, 1 |
External Links |
HGNC: 2888 Entrez Gene: 27185 Ensembl: ENSG00000162946 UCSC: uc010pxh.2 |
No. of Studies | 18 (Positive: 10; Negative: 7; trend: 1) |
Overlap with SZ? | YES |
Overlap with MDD? | YES |
Reference | Tested Markers | Statistical Values/Author Comments | Result Category | Comment on Study |
---|---|---|---|---|
Palo, O. M., 2007 | SNP: rs1000731, rs1322784, rs1411771, rs1538977, rs3738401, rs6675281, rs751229, rs821616, rs967244, rs980989 Haplotype: rs1000731 - rs821616(C-T), rs1000731 - rs821616 - rs1411771(C-T-T), rs1322784 - rs967244(A-G), rs1411771 - rs980989(T-G), rs1538977 - rs1322784(A-A), rs3738401 - rs1538977(A-A), rs6675281 - rs1000731(T-C), rs6675281 - rs1000731 - rs821616(T-C-T), rs751229 - rs3738401(T-A), rs821616 - rs1411771(T-T), rs821616 - rs1411771 - rs980989(T-T-G), rs967244 - rs6675281(G-T), rs1615409 - rs1655285 - rs751229(C-G-T), rs1655285 - rs751229(G-T), rs1655285 - rs751229 - rs3738401(G-T-A) |
The results provide evidence for an association of distinct allelic variants of DISC1 to psychotic and bipolar spectrum disorders. | Positive | Comment on Study |
Maeda, K., 2006 | SNP: rs1000731, rs1407598, rs1538975, rs1954175, rs2273890, rs3524, rs3737597, rs3738401, rs6675281, rs821616, rs821653 Haplotype: rs1538975 - rs3738401 - DISC1_Exon2_Pro/Leu - rs1954175 - rs2273890 - rs1407598 - rs6675281 - rs1000731 - rs821653 - rs821616 - rs3524 - rs3737597(G-G-C-A-T-A-C-G-T-A-C-G), rs1538975 - rs3738401 - DISC1_Exon2_Pro/Leu - rs1954175 - rs2273890 - rs1407598 - rs6675281 - rs1000731 - rs821653 - rs821616 - rs3524 - rs3737597(G-G-C-A-T-C-C-A-T-A-C-G) Other variant: DISC1_exon2_Pro/Leu |
These results suggest that decreased mRNA levels of DISC1 expression, associating with the risk haplotype, may be implicated in the pathophysiology of bipolar disorder. | Positive | Comment on Study |
Ram Murthy, A., 2012 | SNP: rs2812393, rs3738401, rs821616 Haplotype: rs766288 - rs3738401 - rs2812393 - rs821616(C-G-G-T), rs766288 - rs3738401 - rs2812393 - rs821616(A-G-G-T), rs766288 - rs821616(C-A), rs766288 - rs821616(A-A), rs766288 - rs821616(C-T), rs766288 - rs821616(A-T), rs766288 - rs2812393(C-C), rs766288 - rs2812393(A-G), rs766288 - rs2812393(C-G ), rs766288 - rs2812393(A-C ), rs2812393 - rs821616(C-A), rs2812393 - rs821616(G-A), rs2812393 - rs821616(G-T), rs2812393 - rs821616(C-T) |
Our results provide further evidence for sex-dependent effects of the TSNAX/DISC1 locus in the aetiology of SCZ and BPAD. | Positive | Comment on Study |
Perlis, 2008 | SNP: rs1015101, rs10864702, rs11577215, rs1934909, rs2759346 | permuted P< .005 in gene-based association tests. Among 3 genes associated with schizophrenia or bipolar disorder in multiple previous studies, only DISC1 showed evidence of association in this cohort. hese results suggest novel candidates and 1 gene (DISC1) previously associated with schizophrenia that merit further study in bipolar disorder. | Positive | Comment on Study |
Prata, D. P.,2011 | SNP: rs821616 | No significant associations were detected in BP patients. | Negative | Comment on Study |
Xiao, Y.,2011 | SNP: rs1417866, rs1538977, rs1572899, rs16841582, rs1954175, rs2038636, rs2738864, rs3524, rs734551, rs821597, rs821653 Haplotype: rs1572899 - rs1954175(A-C), rs2738864 - rs16841582(C-C), rs821597 - rs821653(A-A) |
This finding provides evidence supporting the role of DISC1 gene in bipolar disorder, and shows the presence of population heterogeneity. | Positive | Comment on Study |
Green, E. K.,2011 | SNP: rs821616 | The known non-synonymous polymorphism rs821616 (Ser704Cys) was not significantly associated with disease. | Negative | Comment on Study |
Song, W.,2010 | Other variant: DISC1_1013 G>A, DISC1_1253 G>A, DISC1_2261 C>G, DISC1_627 C>G, DISC1_IVS1+3 A>T, DISC1_1700 G>A, DISC1_2425 TCATdel, DISC1_74 G>A, DISC1_790 C>T, DISC1_887 A>G | In our sample, ultra-rare(private) protein structural variants in DISC1 are associated with an estimated attributable risk of about 0.5% in bipolar spectrum disorder. | Trend | Comment on Study |
Devon, R. S.,2001 | Other variant: DISC1_A844G, DISC1_C1460T, DISC1_G65049, DISC1_T11840C, DISC1_T2163A | Neither co-segregation with disease status nor significant association was detected. | Negative | Comment on Study |
Hodgkinson, C. A.,2004 | SNP: rs1407598, rs1535529, rs3524 | These data support the idea that these apparently distinct disorders have at least a partially convergent etiology and that variation at the DISC1 locus predisposes individuals to a variety of psychiatric disorders. | Positive | Comment on Study |
McDonald, M. L.,2012 | SNP: rs10495310, rs2812391, rs4658954 | None of the association tests of the tagSNPs with either BPD I or BPD II reached genome-wide significance (P < 5E-08). | Negative | Comment on Study |
Arai, M., 2007 | SNP: rs3738398 Haplotype: rs3738398 - DISC1_-215(TG)8-13([G-(TG)<sub>8</sub>], [G-(TG)<sub>9</sub>], [C-(TG)<sub>12</sub>]) Other variant: DISC1_-215(TG)8-13 |
The polymorphisms in 5' upstream region of the DISC1 gene are unlikely to play a major role in the susceptibility to mood disorders in the Japanese population. | Negative | Comment on Study |
Yosifova, A.,2009 | SNP: rs1322784, rs1538977, rs2492367, rs2812393 | No SNP of this gene had significant association with BD in our population. | Negative | Comment on Study |
Schosser, A., 2010 | SNP: rs1000731, rs12133766, rs2492367, rs3738401, rs6675281, rs7546310, rs821597 Haplotype: rs1000731 - rs7546310(AC), rs1000731 - rs7546310 - rs821597(ACC), rs12133766 - rs1000731(GA), rs12133766 - rs1000731 - rs7546310(GAC), rs2492367 - rs6675281(TC), rs2492367 - rs6675281 - rs12133766(TCG), rs6675281 - rs12133766 - rs1000731(CGA), rs7546310 - rs821597(AT), rs766288 - rs2492367 - rs6675281(ACC), rs766288 - rs2492367(AC) |
We found a significant allelic and genotypic association of the TSNAX-DISC1 gene region with BD. | Positive | Comment on Study |
Thomson, P. A.,2005(a) | SNP: rs1000730, rs1000731, rs1025526, rs1030711, rs1094653, rs11122396, rs1160491, rs12404162, rs1322784, rs1411771, rs1411776, rs1538977, rs1615409, rs1630250, rs1954175, rs1984895, rs2038636, rs2492367, rs2759346, rs2812393, rs3738401, rs6675281, rs701158, rs734551, rs751229, rs766288, rs821597, rs821616, rs821663, rs999710 Haplotype: rs1538977 - rs2492367 - rs2812393(T-T-G), rs1538977 - rs2492367 - rs2812393 - rs1322784(T-T-G-T), rs1954175 - rs1538977 - rs2492367(), rs1954175 - rs1538977 - rs2492367 - rs2812393(A-C-C-G), rs1954175 - rs1538977 - rs2492367 - rs2812393(G-T-T-G), rs2492367 - rs2812393 - rs1322784(C-C-C), rs2492367 - rs2812393 - rs1322784(C-G-T), rs2492367 - rs2812393 - rs1322784 - rs2759346(), rs2812393 - rs1322784(C-C), rs2812393 - rs1322784 - rs2759346 - rs6675281() |
This result provides further supporting evidence for DISC1 as a susceptibility factor for both bipolar disorder and schizophrenia, consistent with the diagnoses in the original Scottish translocation family. | Positive | Comment on Study |
Fallin, M. D.,2005 | 19 SNP typed, Median D'=0.16, Median r<sup>2</sup> =0, 10 LD blocks, 0.46 block coverage, all SNP or haplotype P-value > 0.05 in BP and SZ/SZA... This gene is not suggestive to BP. | Negative | Comment on Study | |
Chakirova, G.,2011 | SNP: rs1538979, rs821633 | In the bipolar group there was decreased activation in the risk carriers of SNP rs821633 in the inferior parietal lobule and left cingulate cortex. These findings may provide a better understanding of the neural effects of DISC1 variants and on the pathophysiology of bipolar disorder. | Positive | Comment on Study |
Hennah, W.,2009 | SNP: rs1538979, rs821577 | These findings provide further support for the role of DISC1 in psychiatric illness and demonstrate the presence of locus heterogeneity, with the effect that clinically relevant genetic variants may go undetected by standard analysis of combined cohorts. | Positive | Comment on Study |
GO terms by PBA (count: 1)

ID | Name | Type | Evidence[PMID] | No. of Genes in BDgene |
---|---|---|---|---|
GO:0045211 | postsynaptic membrane | cellular component | IEA | 68 |
GO terms by database search (count: 20)

Gene | Interactor | Interactor in BDgene? | Experiment Type | PMID |
---|---|---|---|---|
DISC1 | NDEL1 | NO | in vivo;yeast 2-hybrid | 12812986 , 12506198 |
DISC1 | RANBP9 | NO | in vivo;yeast 2-hybrid | 12812986 |
DISC1 | ATF4 | YES | in vivo;yeast 2-hybrid | 12812986 |
DISC1 | ATF7IP | NO | yeast 2-hybrid | 12812986 |
DISC1 | EIF3H | NO | in vivo;yeast 2-hybrid | 12812986 |
DISC1 | KCNQ5 | YES | yeast 2-hybrid | 12506198 |
DISC1 | MAP1A | NO | in vivo;yeast 2-hybrid | 12812986 |
DISC1 | CCDC141 | NO | yeast 2-hybrid | 12812986 |
DISC1 | PCNT | YES | in vivo;yeast 2-hybrid | 15094396 |
DISC1 | TRAF3IP1 | NO | in vivo;yeast 2-hybrid | 12812986 |
DISC1 | SYNE1 | YES | in vivo;yeast 2-hybrid | 12812986 |
DISC1 | ACTN2 | NO | in vivo;yeast 2-hybrid | 12812986 |
DISC1 | YWHAG | NO | yeast 2-hybrid | 12506198 |
DISC1 | FEZ1 | YES | yeast 2-hybrid | 12874605 |
DISC1 | ITSN1 | NO | yeast 2-hybrid | 12812986 |
DISC1 | SPTBN4 | NO | in vivo;yeast 2-hybrid | 12812986 , 12506198 |
DISC1 | ATF5 | YES | in vivo;yeast 2-hybrid | 12812986 |
DISC1 | CIT | YES | yeast 2-hybrid | 12506198 |
Literature-origin SNPs (count: 56)

rs_ID | Location | Functional Annotation | No. of Studies (Positive/Negative/Trend) ![]() |
---|---|---|---|
rs821633 | chr1:232013187 - 232013187(1) | downstream_gene_variant; intron_variant | 1(1/0/0) |
rs821597 | chr1:231966518 - 231966518(1) | intron_variant; NMD_transcript_variant; non_coding_transcript_variant | 3(0/3/0) |
rs1030711 | chr1:231619715 - 231619715(1) | intron_variant; NMD_transcript_variant | 1(1/0/0) |
rs1538977 | chr1:231761557 - 231761557(1) | intron_variant; NMD_transcript_variant | 4(0/4/0) |
rs1417866 | chr1:231951167 - 231951167(1) | intron_variant; NMD_transcript_variant; non_coding_transcript_variant | 1(0/1/0) |
rs751229 | chr1:231632793 - 231632793(1) | intron_variant; NMD_transcript_variant; non_coding_transcript_variant | 2(0/2/0) |
rs999710 | chr1:231875197 - 231875197(1) | intron_variant; NMD_transcript_variant; non_coding_transcript_variant | 1(0/1/0) |
rs3524 | chr1:232022933 - 232022933(1) | intron_variant | 3(1/2/0) |
rs2273890 | chr1:231795302 - 231795302(1) | intron_variant; NMD_transcript_variant; splice_region_variant | 1(0/1/0) |
rs1025526 | chr1:231614895 - 231614895(1) | intron_variant; NMD_transcript_variant; upstream_gene_variant | 1(0/1/0) |
rs11122396 | chr1:232039522 - 232039522(1) | 3_prime_UTR_variant | 1(0/1/0) |
rs2812393 | chr1:231777927 - 231777927(1) | intron_variant; NMD_transcript_variant | 3(1/2/0) |
rs1160491 | chr1:232026147 - 232026147(1) | intron_variant | 1(0/1/0) |
rs1322784 | chr1:231793189 - 231793189(1) | intron_variant; NMD_transcript_variant | 3(0/3/0) |
rs2738864 | chr1:231801734 - 231801734(1) | intron_variant; NMD_transcript_variant | 1(0/1/0) |
rs4658954 | chr1:231843611 - 231843611(1) | intron_variant; NMD_transcript_variant; non_coding_transcript_variant | 1(0/1/0) |
rs1538979 | chr1:231761122 - 231761122(1) | intron_variant; NMD_transcript_variant | 2(1/1/0) |
rs6675281 | chr1:231818355 - 231818355(1) | 3_prime_UTR_variant; downstream_gene_variant; intron_variant; missense_variant; NMD_transcript_variant; synonymous_variant; upstream_gene_variant | 4(0/4/0) |
rs16841582 | chr1:231837888 - 231837888(1) | intron_variant; NMD_transcript_variant; non_coding_transcript_variant | 1(1/0/0) |
rs1572899 | chr1:231689744 - 231689744(1) | intron_variant; NMD_transcript_variant; non_coding_transcript_variant | 1(0/1/0) |
rs2812391 | chr1:231776230 - 231776230(1) | intron_variant; NMD_transcript_variant | 1(0/1/0) |
rs821653 | chr1:231991141 - 231991141(1) | intron_variant; NMD_transcript_variant; non_coding_transcript_variant | 2(0/2/0) |
rs821663 | chr1:231985476 - 231985476(1) | intron_variant; NMD_transcript_variant; non_coding_transcript_variant | 1(0/1/0) |
rs1411771 | chr1:232039029 - 232039029(1) | 3_prime_UTR_variant | 2(0/2/0) |
rs1615409 | chr1:231547671 - 231547671(1) | downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant | 2(0/2/0) |
rs12133766 | chr1:231818399 - 231818399(1) | 3_prime_UTR_variant; downstream_gene_variant; intron_variant; NMD_transcript_variant; synonymous_variant; upstream_gene_variant | 1(0/1/0) |
rs3737597 | chr1:232037092 - 232037092(1) | 3_prime_UTR_variant | 1(0/1/0) |
rs1411776 | chr1:232041741 - 232041741(1) | downstream_gene_variant | 1(0/1/0) |
rs1094653 | chr1:231659048 - 231659048(1) | intron_variant; NMD_transcript_variant; non_coding_transcript_variant | 1(0/1/0) |
rs821616 | chr1:232008852 - 232008852(1) | 3_prime_UTR_variant; missense_variant; NMD_transcript_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant | 6(1/5/0) |
rs3738401 | chr1:231694549 - 231694549(1) | 3_prime_UTR_variant; downstream_gene_variant; intron_variant; missense_variant; NMD_transcript_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant | 5(0/5/0) |
rs1954175 | chr1:231719664 - 231719664(1) | intron_variant; NMD_transcript_variant | 3(0/3/0) |
rs734551 | chr1:231858687 - 231858687(1) | downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant | 2(0/2/0) |
rs7546310 | chr1:231926074 - 231926074(1) | intron_variant; NMD_transcript_variant; non_coding_transcript_variant | 1(1/0/0) |
rs1535529 | chr1:231818863 - 231818863(1) | 3_prime_UTR_variant; downstream_gene_variant; intron_variant; NMD_transcript_variant; upstream_gene_variant | 1(1/0/0) |
rs1407598 | chr1:231811079 - 231811079(1) | intron_variant; NMD_transcript_variant; upstream_gene_variant | 2(1/1/0) |
rs1934909 | chr1:231715533 - 231715533(1) | intron_variant; NMD_transcript_variant | 1(1/0/0) |
rs2038636 | chr1:231919503 - 231919503(1) | intron_variant; NMD_transcript_variant; non_coding_transcript_variant | 2(0/2/0) |
rs12404162 | chr1:232040283 - 232040283(1) | 3_prime_UTR_variant | 1(0/1/0) |
rs2492367 | chr1:231770843 - 231770843(1) | 3_prime_UTR_variant; intron_variant; missense_variant; NMD_transcript_variant; synonymous_variant | 3(1/2/0) |
rs967244 | chr1:231812900 - 231812900(1) | intron_variant; NMD_transcript_variant; upstream_gene_variant | 1(0/1/0) |
rs701158 | chr1:231937382 - 231937382(1) | intron_variant; NMD_transcript_variant; non_coding_transcript_variant | 1(0/1/0) |
rs2759346 | chr1:231813075 - 231813075(1) | intron_variant; NMD_transcript_variant; upstream_gene_variant | 2(1/1/0) |
rs1984895 | chr1:231826551 - 231826551(1) | intron_variant; NMD_transcript_variant; non_coding_transcript_variant | 1(0/1/0) |
rs1538975 | chr1:231692626 - 231692626(1) | intron_variant; NMD_transcript_variant; non_coding_transcript_variant | 1(0/1/0) |
rs766288 | chr1:231557942 - 231557942(1) | downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant | 4(1/3/0) |
rs11577215 | chr1:231901160 - 231901160(1) | intron_variant; NMD_transcript_variant; non_coding_transcript_variant | 1(0/1/0) |
rs1630250 | chr1:231528457 - 231528457(1) | non_coding_transcript_exon_variant; non_coding_transcript_variant; upstream_gene_variant | 3(0/3/0) |
rs1000731 | chr1:231827745 - 231827745(1) | intron_variant; NMD_transcript_variant; non_coding_transcript_variant | 4(0/4/0) |
rs1000730 | chr1:231827855 - 231827855(1) | intron_variant; NMD_transcript_variant; non_coding_transcript_variant | 1(0/1/0) |
rs1015101 | chr1:231871948 - 231871948(1) | intron_variant; NMD_transcript_variant; non_coding_transcript_variant | 1(1/0/0) |
rs980989 | chr1:232040449 - 232040449(1) | 3_prime_UTR_variant | 1(0/1/0) |
rs10495310 | chr1:231783030 - 231783030(1) | intron_variant; NMD_transcript_variant | 1(0/1/0) |
rs821577 | chr1:231931311 - 231931311(1) | intron_variant; NMD_transcript_variant; non_coding_transcript_variant | 1(1/0/0) |
rs3738398 | chr1:231626594 - 231626594(1) | intron_variant; NMD_transcript_variant; upstream_gene_variant | 1(0/1/0) |
rs10864702 | chr1:231914907 - 231914907(1) | intron_variant; NMD_transcript_variant; non_coding_transcript_variant | 1(1/0/0) |
LD-proxies (count: 189)

rs_ID | Literature-origin SNPs with LD | Location | Functional Annotation |
---|---|---|---|
rs821639 | chr1:232014097 - 232014097(1) | downstream_gene_variant; intron_variant | |
rs821627 | chr1:232011422 - 232011422(1) | downstream_gene_variant; intron_variant | |
rs821638 | chr1:232014062 - 232014062(1) | downstream_gene_variant; intron_variant | |
rs849349 | chr1:232011658 - 232011658(1) | downstream_gene_variant; intron_variant | |
rs821637 | chr1:232013965 - 232013965(1) | downstream_gene_variant; intron_variant | |
rs1754607 | chr1:232001630 - 232001630(1) | intron_variant; NMD_transcript_variant; non_coding_transcript_variant | |
rs821635 | chr1:232013795 - 232013795(1) | downstream_gene_variant; intron_variant | |
rs821624 | chr1:232011348 - 232011348(1) | downstream_gene_variant; intron_variant | |
rs821643 | chr1:232014444 - 232014444(1) | downstream_gene_variant; intron_variant | |
rs821655 | chr1:231992515 - 231992515(1) | intron_variant; NMD_transcript_variant; non_coding_transcript_variant | |
rs821642 | chr1:232014383 - 232014383(1) | downstream_gene_variant; intron_variant | |
rs843979 | chr1:231994862 - 231994862(1) | intron_variant; NMD_transcript_variant; non_coding_transcript_variant | |
rs821641 | chr1:232014232 - 232014232(1) | downstream_gene_variant; intron_variant | |
rs701162 | chr1:231989305 - 231989305(1) | intron_variant; NMD_transcript_variant; non_coding_transcript_variant | |
rs821640 | chr1:232014149 - 232014149(1) | downstream_gene_variant; intron_variant | |
rs821654 | chr1:231991608 - 231991608(1) | intron_variant; NMD_transcript_variant; non_coding_transcript_variant | |
rs821662 | chr1:231985389 - 231985389(1) | intron_variant; NMD_transcript_variant; non_coding_transcript_variant | |
rs2806458 | chr1:232020509 - 232020509(1) | intron_variant | |
rs821664 | chr1:231986176 - 231986176(1) | intron_variant; NMD_transcript_variant; non_coding_transcript_variant | |
rs701161 | chr1:231968368 - 231968368(1) | intron_variant; NMD_transcript_variant; non_coding_transcript_variant | |
rs821600 | chr1:231981280 - 231981280(1) | intron_variant; NMD_transcript_variant; non_coding_transcript_variant | |
rs821634 | chr1:232013774 - 232013774(1) | downstream_gene_variant; intron_variant | |
rs1538978 | chr1:231761169 - 231761169(1) | intron_variant; NMD_transcript_variant | |
rs1538976 | chr1:231761883 - 231761883(1) | intron_variant; NMD_transcript_variant | |
rs2793086 | chr1:231763958 - 231763958(1) | intron_variant; NMD_transcript_variant | |
rs3738402 | chr1:231767264 - 231767264(1) | 3_prime_UTR_variant; intron_variant; NMD_transcript_variant; synonymous_variant | |
rs12136198 | chr1:231952569 - 231952569(1) | intron_variant; NMD_transcript_variant; non_coding_transcript_variant | |
rs16854940 | chr1:231771101 - 231771101(1) | intron_variant; NMD_transcript_variant | |
rs16855691 | chr1:231949739 - 231949739(1) | downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant | |
rs1009587 | chr1:231876203 - 231876203(1) | intron_variant; NMD_transcript_variant; non_coding_transcript_variant | |
rs821644 | chr1:232014453 - 232014453(1) | downstream_gene_variant; intron_variant | |
rs821645 | chr1:232014745 - 232014745(1) | intron_variant | |
rs821648 | chr1:232017285 - 232017285(1) | intron_variant | |
rs16855108 | chr1:231824431 - 231824431(1) | intron_variant; NMD_transcript_variant; non_coding_transcript_variant | |
rs16856354 | chr1:232045259 - 232045259(1) | downstream_gene_variant | |
rs6672782 | chr1:231818248 - 231818248(1) | downstream_gene_variant; intron_variant; NMD_transcript_variant; upstream_gene_variant | |
rs16856355 | chr1:232045320 - 232045320(1) | downstream_gene_variant | |
rs16856349 | chr1:232044803 - 232044803(1) | downstream_gene_variant | |
rs16856351 | chr1:232044826 - 232044826(1) | downstream_gene_variant | |
rs16856342 | chr1:232044397 - 232044397(1) | downstream_gene_variant | |
rs16856346 | chr1:232044441 - 232044441(1) | downstream_gene_variant | |
rs16856339 | chr1:232043460 - 232043460(1) | downstream_gene_variant | |
rs11122398 | chr1:232043712 - 232043712(1) | downstream_gene_variant | |
rs16856330 | chr1:232041916 - 232041916(1) | downstream_gene_variant | |
rs16856336 | chr1:232043165 - 232043165(1) | downstream_gene_variant | |
rs16856305 | chr1:232035783 - 232035783(1) | intron_variant | |
rs2812389 | chr1:231775265 - 231775265(1) | intron_variant; NMD_transcript_variant | |
rs2812392 | chr1:231777907 - 231777907(1) | intron_variant; NMD_transcript_variant | |
rs16856365 | chr1:232045979 - 232045979(1) | downstream_gene_variant | |
rs2812390 | chr1:231775852 - 231775852(1) | intron_variant; NMD_transcript_variant | |
rs16856363 | chr1:232045965 - 232045965(1) | downstream_gene_variant | |
rs16856357 | chr1:232045496 - 232045496(1) | downstream_gene_variant | |
rs3082 | chr1:231866646 - 231866646(1) | 3_prime_UTR_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant | |
rs4325116 | chr1:231789295 - 231789295(1) | intron_variant; NMD_transcript_variant | |
rs12751370 | chr1:231852668 - 231852668(1) | intron_variant; NMD_transcript_variant; non_coding_transcript_variant | |
rs11588004 | chr1:231853450 - 231853450(1) | intron_variant; NMD_transcript_variant; non_coding_transcript_variant | |
rs1079344 | chr1:231856351 - 231856351(1) | downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant | |
rs748583 | chr1:231857092 - 231857092(1) | downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant | |
rs2738887 | chr1:231798016 - 231798016(1) | intron_variant; NMD_transcript_variant | |
rs7514199 | chr1:231798956 - 231798956(1) | intron_variant; NMD_transcript_variant | |
rs2255340 | chr1:231800404 - 231800404(1) | intron_variant; NMD_transcript_variant | |
rs6672139 | chr1:231787491 - 231787491(1) | intron_variant; NMD_transcript_variant | |
rs9803690 | chr1:231787599 - 231787599(1) | intron_variant; NMD_transcript_variant | |
rs4385690 | chr1:231788515 - 231788515(1) | intron_variant; NMD_transcript_variant | |
rs1998406 | chr1:231794210 - 231794210(1) | intron_variant; NMD_transcript_variant | |
rs17749485 | chr1:231772767 - 231772767(1) | intron_variant; NMD_transcript_variant | |
rs2794273 | chr1:231958983 - 231958983(1) | 3_prime_UTR_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant | |
rs11588799 | chr1:231846525 - 231846525(1) | intron_variant; NMD_transcript_variant; non_coding_transcript_variant | |
rs12046794 | chr1:231773009 - 231773009(1) | intron_variant; NMD_transcript_variant | |
rs864752 | chr1:232011854 - 232011854(1) | downstream_gene_variant; intron_variant | |
rs4575071 | chr1:231849785 - 231849785(1) | intron_variant; NMD_transcript_variant; non_coding_transcript_variant | |
rs17819668 | chr1:231848660 - 231848660(1) | intron_variant; NMD_transcript_variant; non_coding_transcript_variant | |
rs11122330 | chr1:231762845 - 231762845(1) | intron_variant; NMD_transcript_variant | |
rs11122331 | chr1:231766384 - 231766384(1) | intron_variant; NMD_transcript_variant | |
rs6663650 | chr1:231767667 - 231767667(1) | intron_variant; NMD_transcript_variant | |
rs11122347 | chr1:231836280 - 231836280(1) | intron_variant; NMD_transcript_variant; non_coding_transcript_variant | |
rs821622 | chr1:232010659 - 232010659(1) | downstream_gene_variant; intron_variant | |
rs12406166 | chr1:231834872 - 231834872(1) | intron_variant; NMD_transcript_variant; non_coding_transcript_variant | |
rs821621 | chr1:232010318 - 232010318(1) | downstream_gene_variant; intron_variant | |
rs6663190 | chr1:231838176 - 231838176(1) | intron_variant; NMD_transcript_variant; non_coding_transcript_variant | |
rs866596 | chr1:232011184 - 232011184(1) | downstream_gene_variant; intron_variant | |
rs7551537 | chr1:231836471 - 231836471(1) | intron_variant; NMD_transcript_variant; non_coding_transcript_variant | |
rs821623 | chr1:232010835 - 232010835(1) | downstream_gene_variant; intron_variant | |
rs821629 | chr1:232011646 - 232011646(1) | downstream_gene_variant; intron_variant | |
rs821628 | chr1:232011505 - 232011505(1) | downstream_gene_variant; intron_variant | |
rs2738880 | chr1:231818153 - 231818153(1) | downstream_gene_variant; intron_variant; NMD_transcript_variant; upstream_gene_variant | |
rs866055 | chr1:232011822 - 232011822(1) | downstream_gene_variant; intron_variant | |
rs2772114 | chr1:232004597 - 232004597(1) | intron_variant; NMD_transcript_variant; non_coding_transcript_variant | |
rs2806474 | chr1:232004533 - 232004533(1) | intron_variant; NMD_transcript_variant; non_coding_transcript_variant | |
rs821602 | chr1:232005658 - 232005658(1) | intron_variant; NMD_transcript_variant; non_coding_transcript_variant | |
rs2806475 | chr1:232004669 - 232004669(1) | intron_variant; NMD_transcript_variant; non_coding_transcript_variant | |
rs860272 | chr1:232006763 - 232006763(1) | intron_variant; NMD_transcript_variant; non_coding_transcript_variant | |
rs821605 | chr1:232006190 - 232006190(1) | intron_variant; NMD_transcript_variant; non_coding_transcript_variant | |
rs821620 | chr1:232009939 - 232009939(1) | downstream_gene_variant; intron_variant | |
rs821615 | chr1:232008200 - 232008200(1) | intron_variant; NMD_transcript_variant; non_coding_transcript_variant | |
rs1754606 | chr1:232001848 - 232001848(1) | intron_variant; NMD_transcript_variant; non_coding_transcript_variant | |
rs1754605 | chr1:232001928 - 232001928(1) | intron_variant; NMD_transcript_variant; non_coding_transcript_variant | |
rs1772702 | chr1:232002653 - 232002653(1) | intron_variant; NMD_transcript_variant; non_coding_transcript_variant | |
rs1772701 | chr1:232002687 - 232002687(1) | intron_variant; NMD_transcript_variant; non_coding_transcript_variant | |
rs1754604 | chr1:232002861 - 232002861(1) | intron_variant; NMD_transcript_variant; non_coding_transcript_variant | |
rs1754603 | chr1:232002876 - 232002876(1) | intron_variant; NMD_transcript_variant; non_coding_transcript_variant | |
rs1772699 | chr1:232003230 - 232003230(1) | intron_variant; NMD_transcript_variant; non_coding_transcript_variant | |
rs1772696 | chr1:232003449 - 232003449(1) | intron_variant; NMD_transcript_variant; non_coding_transcript_variant | |
rs821652 | chr1:231990910 - 231990910(1) | intron_variant; NMD_transcript_variant; non_coding_transcript_variant | |
rs821660 | chr1:231999274 - 231999274(1) | intron_variant; NMD_transcript_variant; non_coding_transcript_variant | |
rs821661 | chr1:231999451 - 231999451(1) | intron_variant; NMD_transcript_variant; non_coding_transcript_variant | |
rs1772703 | chr1:232000555 - 232000555(1) | intron_variant; NMD_transcript_variant; non_coding_transcript_variant | |
rs12087793 | chr1:231838645 - 231838645(1) | intron_variant; NMD_transcript_variant; non_coding_transcript_variant | |
rs1754609 | chr1:232000569 - 232000569(1) | intron_variant; NMD_transcript_variant; non_coding_transcript_variant | |
rs1754608 | chr1:232000932 - 232000932(1) | intron_variant; NMD_transcript_variant; non_coding_transcript_variant | |
rs821647 | chr1:232016162 - 232016162(1) | intron_variant | |
rs3121910 | chr1:232001447 - 232001447(1) | intron_variant; NMD_transcript_variant; non_coding_transcript_variant | |
rs2772120 | chr1:232001530 - 232001530(1) | intron_variant; NMD_transcript_variant; non_coding_transcript_variant | |
rs11122322 | chr1:231708216 - 231708216(1) | intron_variant; NMD_transcript_variant | |
rs12043433 | chr1:231707845 - 231707845(1) | intron_variant; NMD_transcript_variant | |
rs10429979 | chr1:231707823 - 231707823(1) | intron_variant; NMD_transcript_variant | |
rs16854809 | chr1:231703501 - 231703501(1) | downstream_gene_variant; intron_variant; NMD_transcript_variant | |
rs17766890 | chr1:231813586 - 231813586(1) | intron_variant; NMD_transcript_variant; upstream_gene_variant | |
rs12040182 | chr1:231703419 - 231703419(1) | downstream_gene_variant; intron_variant; NMD_transcript_variant | |
rs11577035 | chr1:231700195 - 231700195(1) | intron_variant; NMD_transcript_variant; non_coding_transcript_variant | |
rs12139080 | chr1:231841806 - 231841806(1) | intron_variant; NMD_transcript_variant; non_coding_transcript_variant | |
rs11122321 | chr1:231699864 - 231699864(1) | intron_variant; NMD_transcript_variant; non_coding_transcript_variant | |
rs12135837 | chr1:231838365 - 231838365(1) | intron_variant; NMD_transcript_variant; non_coding_transcript_variant | |
rs17748239 | chr1:231699155 - 231699155(1) | intron_variant; NMD_transcript_variant; non_coding_transcript_variant | |
rs11122324 | chr1:231723435 - 231723435(1) | 3_prime_UTR_variant; intron_variant; NMD_transcript_variant | |
rs6696914 | chr1:231717734 - 231717734(1) | intron_variant; NMD_transcript_variant | |
rs6693517 | chr1:231716698 - 231716698(1) | intron_variant; NMD_transcript_variant | |
rs6667123 | chr1:231716245 - 231716245(1) | intron_variant; NMD_transcript_variant | |
rs12045248 | chr1:231715002 - 231715002(1) | intron_variant; NMD_transcript_variant | |
rs11122323 | chr1:231713187 - 231713187(1) | intron_variant; NMD_transcript_variant | |
rs12044355 | chr1:231708601 - 231708601(1) | intron_variant; NMD_transcript_variant | |
rs12045144 | chr1:231708502 - 231708502(1) | intron_variant; NMD_transcript_variant | |
rs10429978 | chr1:231687916 - 231687916(1) | intron_variant; NMD_transcript_variant; non_coding_transcript_variant | |
rs1977797 | chr1:231689328 - 231689328(1) | intron_variant; NMD_transcript_variant; non_coding_transcript_variant | |
rs2487453 | chr1:231727458 - 231727458(1) | downstream_gene_variant; intron_variant; NMD_transcript_variant | |
rs12034296 | chr1:231684331 - 231684331(1) | intron_variant; NMD_transcript_variant; non_coding_transcript_variant; upstream_gene_variant | |
rs6691979 | chr1:231724936 - 231724936(1) | downstream_gene_variant; intron_variant; NMD_transcript_variant | |
rs1340982 | chr1:231726286 - 231726286(1) | downstream_gene_variant; intron_variant; NMD_transcript_variant | |
rs821651 | chr1:231990857 - 231990857(1) | intron_variant; NMD_transcript_variant; non_coding_transcript_variant | |
rs701163 | chr1:231989363 - 231989363(1) | intron_variant; NMD_transcript_variant; non_coding_transcript_variant | |
rs821598 | chr1:231967601 - 231967601(1) | intron_variant; NMD_transcript_variant; non_coding_transcript_variant | |
rs821596 | chr1:231965852 - 231965852(1) | intron_variant; NMD_transcript_variant; non_coding_transcript_variant | |
rs821592 | chr1:231958513 - 231958513(1) | intron_variant; NMD_transcript_variant; non_coding_transcript_variant | |
rs11589082 | chr1:231688910 - 231688910(1) | intron_variant; NMD_transcript_variant; non_coding_transcript_variant | |
rs11583715 | chr1:231693293 - 231693293(1) | intron_variant; NMD_transcript_variant; non_coding_transcript_variant | |
rs11586191 | chr1:231696035 - 231696035(1) | downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant | |
rs11585959 | chr1:231697972 - 231697972(1) | downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant | |
rs11585981 | chr1:231698216 - 231698216(1) | downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant | |
rs12040259 | chr1:231690507 - 231690507(1) | intron_variant; NMD_transcript_variant; non_coding_transcript_variant | |
rs16854779 | chr1:231691572 - 231691572(1) | intron_variant; NMD_transcript_variant; non_coding_transcript_variant | |
rs16854783 | chr1:231691625 - 231691625(1) | intron_variant; NMD_transcript_variant; non_coding_transcript_variant | |
rs1538974 | chr1:231692850 - 231692850(1) | intron_variant; NMD_transcript_variant; non_coding_transcript_variant | |
rs16856322 | chr1:232041241 - 232041241(1) | 3_prime_UTR_variant; downstream_gene_variant | |
rs9729179 | chr1:232038427 - 232038427(1) | 3_prime_UTR_variant | |
rs12139117 | chr1:231848077 - 231848077(1) | intron_variant; NMD_transcript_variant; non_coding_transcript_variant | |
rs12757857 | chr1:231863117 - 231863117(1) | intron_variant; NMD_transcript_variant; non_coding_transcript_variant | |
rs12139880 | chr1:231848014 - 231848014(1) | intron_variant; NMD_transcript_variant; non_coding_transcript_variant | |
rs7549664 | chr1:231860963 - 231860963(1) | intron_variant; NMD_transcript_variant; non_coding_transcript_variant | |
rs2759330 | chr1:231824408 - 231824408(1) | intron_variant; NMD_transcript_variant; non_coding_transcript_variant | |
rs11122342 | chr1:231817632 - 231817632(1) | downstream_gene_variant; intron_variant; NMD_transcript_variant; upstream_gene_variant | |
rs1341555 | chr1:231933311 - 231933311(1) | intron_variant; NMD_transcript_variant; non_coding_transcript_variant | |
rs6674099 | chr1:231831116 - 231831116(1) | intron_variant; NMD_transcript_variant; non_coding_transcript_variant | |
rs1535530 | chr1:231818681 - 231818681(1) | 3_prime_UTR_variant; downstream_gene_variant; intron_variant; NMD_transcript_variant; upstream_gene_variant | |
rs1094655 | chr1:231638616 - 231638616(1) | intron_variant; NMD_transcript_variant; non_coding_transcript_variant | |
rs823161 | chr1:231639271 - 231639271(1) | intron_variant; NMD_transcript_variant; non_coding_transcript_variant | |
rs980394 | chr1:231643761 - 231643761(1) | intron_variant; NMD_transcript_variant; non_coding_transcript_variant | |
rs823165 | chr1:231633700 - 231633700(1) | intron_variant; NMD_transcript_variant; non_coding_transcript_variant | |
rs823163 | chr1:231635362 - 231635362(1) | intron_variant; NMD_transcript_variant; non_coding_transcript_variant | |
rs1094656 | chr1:231637929 - 231637929(1) | intron_variant; NMD_transcript_variant; non_coding_transcript_variant | |
rs4658949 | chr1:231812573 - 231812573(1) | intron_variant; NMD_transcript_variant; upstream_gene_variant | |
rs11588937 | chr1:231819126 - 231819126(1) | 3_prime_UTR_variant; downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant | |
rs11589087 | chr1:231834531 - 231834531(1) | intron_variant; NMD_transcript_variant; non_coding_transcript_variant | |
rs11122319 | chr1:231672536 - 231672536(1) | downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant | |
rs6541281 | chr1:231677388 - 231677388(1) | intron_variant; NMD_transcript_variant; non_coding_transcript_variant | |
rs12042938 | chr1:231681096 - 231681096(1) | intron_variant; NMD_transcript_variant; non_coding_transcript_variant; upstream_gene_variant | |
rs9729194 | chr1:232033121 - 232033121(1) | intron_variant | |
rs11578905 | chr1:232037775 - 232037775(1) | 3_prime_UTR_variant | |
rs9308481 | chr1:232040560 - 232040560(1) | 3_prime_UTR_variant | |
rs12118641 | chr1:232042224 - 232042224(1) | downstream_gene_variant | |
rs9701655 | chr1:232030572 - 232030572(1) | intron_variant | |
rs9699636 | chr1:232030586 - 232030586(1) | intron_variant | |
rs4366301 | chr1:231670540 - 231670540(1) | intron_variant; NMD_transcript_variant; non_coding_transcript_variant; upstream_gene_variant | |
rs10864693 | chr1:231668347 - 231668347(1) | intron_variant; NMD_transcript_variant; non_coding_transcript_variant; upstream_gene_variant | |
rs1417585 | chr1:231667858 - 231667858(1) | intron_variant; NMD_transcript_variant; non_coding_transcript_variant; upstream_gene_variant | |
rs823160 | chr1:231640890 - 231640890(1) | intron_variant; NMD_transcript_variant; non_coding_transcript_variant | |
rs823167 | chr1:231631484 - 231631484(1) | intron_variant; NMD_transcript_variant; non_coding_transcript_variant | |
rs6687338 | chr1:231918825 - 231918825(1) | intron_variant; NMD_transcript_variant; non_coding_transcript_variant | |
rs11122374 | chr1:231918332 - 231918332(1) | intron_variant; NMD_transcript_variant; non_coding_transcript_variant | |
rs11122373 | chr1:231917981 - 231917981(1) | intron_variant; NMD_transcript_variant; non_coding_transcript_variant |
Variant Name | Variant Type | Location in Gene | No. of Studies (Positive/Negative/Trend) ![]() |
---|---|---|---|
DISC1_1013 G>A | point mutation | 1 (0/0/1) | |
DISC1_887 A>G | point mutation | 1 (0/0/1) | |
DISC1_A844G | point mutation | 1 (0/1/0) | |
DISC1_C1460T | point mutation | 1 (0/1/0) | |
DISC1_exon2_Pro/Leu | point mutation | exon2 | 1 (0/1/0) |
DISC1_G65049 | microsatellite | 1 (0/1/0) | |
DISC1_IVS1+3 A>T | point mutation | 1 (0/0/1) | |
DISC1_T11840C | point mutation | 1 (0/1/0) | |
DISC1_T2163A | point mutation | 1 (0/1/0) | |
DISC1_1253 G>A | point mutation | 1 (0/0/1) | |
DISC1_1700 G>A | point mutation | 1 (0/0/1) | |
DISC1_-215(TG)8-13 | others | 5' upstream | 1 (0/1/0) |
DISC1_2261 C>G | point mutation | 1 (0/0/1) | |
DISC1_2425 TCATdel | insertion/deletion | 1 (0/0/1) | |
DISC1_627 C>G | point mutation | 1 (0/0/1) | |
DISC1_74 G>A | point mutation | 1 (0/0/1) | |
DISC1_790 C>T | point mutation | 1 (0/0/1) |
Region Name | Position | No. of Studies (Positive/Negative/Trend) ![]() |
---|---|---|
1q42 | chr1:223900000-236400000 | 1 (0/1/0) |
Chr 1 | chr1:0-248956422 | 2 (0/2/0) |
Overlap with SZ from cross-disorder studies (count: 7)

Reference | Description | Result Category |
---|---|---|
11525420 | Neither co-segregation with disease status nor significant association was detected. | Negative |
15838535 | This result provides further supporting evidence for DISC1 as a susceptibility factor for both bipolar disorder and schizophrenia, consistent with the diagnoses in the original Scottish translocation family. | Positive |
21376542 | There was an effect of SNP rs1538979 in the pre/postcentral gyrus with decreased activation in healthy controls and increased activation in patients with schizophrenia.These findings may provide a better understanding of the neural effects of DISC1 variants and on the pathophysiology of schizophrenia. | Positive |
22673686 | Our results provide further evidence for sex-dependent effects of the TSNAX/DISC1 locus in the aetiology of SCZ and BPAD. | Positive |
16380905 | This gene is not suggestive to SZ/SZA. | Negative |
21091867 | One significant genotype by diagnosis interaction was observed. | Positive |
15386212 | These data support the idea that these apparently distinct disorders have at least a partially convergent etiology and that variation at the DISC1 locus predisposes individuals to a variety of psychiatric disorders. | Positive |
Overlap with SZ from candidate gene intersection analysis (count: 32)

Reference | ID in SZGene | Result Category |
---|---|---|
19632097 | 238 | Positive |
17286247 | 238 | Positive |
16524593 | 238 | Trend |
19944766 | 238 | Negative |
11525420 | 238 | Negative |
15838535 | 238 | Positive |
16275808 | 238 | Positive |
19414483 | 238 | Positive |
20531374 | 238 | Positive |
19158809 | 238 | Trend |
15342131 | 238 | Positive |
17006672 | 238 | Positive |
14532331 | 238 | Positive |
16997000 | 238 | Positive |
15939883 | 238 | Positive |
19913623 | 238 | Positive |
20505556 | 238 | Positive |
16959794 | 238 | Positive |
18317464 | 238 | Positive |
9460802 | 238 | Negative |
17997036 | 238 | Negative |
16380905 | 238 | Negative |
15197400 | 238 | Positive |
17055463 | 238 | Positive |
20084519 | 238 | Trend |
16039834 | 238 | Negative |
18818052 | 238 | Positive |
16389590 | 238 | Positive |
18164685 | 238 | Positive |
18198266 | 238 | Negative |
15386212 | 238 | Positive |
18078707 | 238 | Positive |
Overlap with MDD from cross-disorder studies (count: 2)

Reference | Description | Category in MDD |
---|---|---|
19255581 | a haplotypic association was found for both BD and MDD. | Positive |
18075479 | no SNP or haplotype of the DISC1 gene is associated with unipolar disorder in the Japanese population. | Negative |
Overlap with MDD from candidate gene intersection analysis (count: 2)

Reference | Description | Category in MDD | Link in MK4MDD |
---|---|---|---|
16959794 | We found that Cys704 allele of the Ser704Cys single-nucleotide polymorphism (SNP) was associated with an increased risk of developing MDD (P=0.005, odds ratio=1.46) and stronger evidence for association in a multi-marker haplotype analysis containing this SNP (P=0.002). | Pos | DISC1 |
Region: chr1:231626815..232041272 View in gBrowse
Copyright: Bioinformatics Lab, Institute of Psychology, Chinese Academy of Sciences Feedback
Acknowledgements
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Last update: March 31, 2016