SNP Report

Basic Info
| Name |
rs1538979
dbSNP
Ensembl
|
| Location |
chr1:231761122 - 231761122(1) |
| Variant Alleles |
C/T |
| Ancestral Allele |
C |
| Minor Allele |
T |
| Minor Allele Frequence |
0.236022 |
| Functional Annotation |
intron_variant; NMD_transcript_variant.
|
| Consequence to Transcript |
intron_variant(ENST00000295051, ENST00000366632, ENST00000366633, ENST00000366636, ENST00000366637, ENST00000422590, ENST00000439617, ENST00000535944, ENST00000535983, ENST00000537876, ENST00000539444, ENST00000602281, ENST00000602567, ENST00000602634, ENST00000602700, ENST00000602713, ENST00000602822, ENST00000602873, ENST00000602885, ENST00000602956, ENST00000602962, ENST00000620189, ENST00000622252, ENST00000628350); NMD_transcript_variant(ENST00000295051, ENST00000366632, ENST00000422590, ENST00000535944, ENST00000602567, ENST00000602634, ENST00000602700, ENST00000602713, ENST00000602822, ENST00000602885, ENST00000602956, ENST00000602962) |
| No. of Studies |
2 (Positive: 1; Negative: 1; Trend: 0) |
| Source |
Literature |
| Overlap with SZ? |
YES
|
| Overlap with MDD? |
NO
|

SNP related studies (count: 2)

SNP related genes (count: 1)
The LD data used here is based on HapMap rel#27. LD SNP pairs were selected with a threshold r2<=0.8.
Literature-origin SNPs (count: 0)
LD-proxies (count: 5)

| rs_ID |
Literature-origin SNPs with LD |
Functional Annotation |
r2[population] |
|
rs11122331
|
|
intron_variant; NMD_transcript_variant |
0.93[CEU]; 0.956[TSI]
|
|
rs12046794
|
|
intron_variant; NMD_transcript_variant |
0.804[CEU]
|
|
rs17749485
|
|
intron_variant; NMD_transcript_variant |
0.93[CEU]
|
|
rs6663650
|
|
intron_variant; NMD_transcript_variant |
0.93[CEU]
|
|
rs11122330
|
|
intron_variant; NMD_transcript_variant |
0.93[CEU]; 0.916[TSI]
|

Overlap with SZ from cross-disorder studies (count: 1)
| Reference |
Statistical Result |
Description |
Result Category |
| Chakirova, G.,2011 |
(CC+CT)>CC:for SZ, in the left postcentral gyrus (P-value corrected=0.001, z=4.39) for the sentence completion versus baseline. |
The schizophrenia group activation was significantly increased in those carrying the risk allele of rs1538979 compared to non-carriers in the left postcentral gyrus for the sentence completion versus baseline. |
Positive |

Overlap with MDD from cross-disorder studies (count: 0)