SNP Report

Basic Info
Name rs8647 dbSNP Ensembl
Location chr19:49933723 - 49933723(1)
Variant Alleles G/A
Ancestral Allele G
Minor Allele A
Minor Allele Frequence 0.282548
Functional Annotation 3_prime_UTR_variant; downstream_gene_variant; intron_variant; NMD_transcript_variant; upstream_gene_variant.
Consequence to Transcript 3_prime_UTR_variant(ENST00000423777); downstream_gene_variant(ENST00000578027, ENST00000595125, ENST00000596658, ENST00000597227, ENST00000600336); intron_variant(ENST00000451973); NMD_transcript_variant(ENST00000451973); upstream_gene_variant(ENST00000341114, ENST00000352066, ENST00000422090, ENST00000593652, ENST00000594673, ENST00000595463, ENST00000595948, ENST00000596011, ENST00000596022, ENST00000596217, ENST00000596437, ENST00000596680, ENST00000597029, ENST00000597295, ENST00000597723, ENST00000597814, ENST00000598301, ENST00000599186, ENST00000599560, ENST00000599567, ENST00000599788, ENST00000599830, ENST00000600583, ENST00000600935, ENST00000601665, ENST00000601717)
No. of Studies 1 (Positive: 0; Negative: 1; Trend: 0)
Source Literature
Overlap with SZ? NO
Overlap with MDD? NO

SNP related studies (count: 1)
Reference Allele Change Risk Allele Statistical Values Author Comments Result Category
Kakiuchi, C., 2007 (b) A/G Fisher's exact test, genotypic P-value = 0.261, allelic P-va...... Fisher's exact test, genotypic P-value = 0.261, allelic P-value = 0.35 in MDMD samples, Fisher's exact test, genotypic P-value = 0.705, allelic P-value = 0.92 in MPS samples, Fisher's exact test, genotypic P-value = 0.253, allelic P-value = 0.517 in total samples; TDT P-value = 0.889, X2=0.02 in NIMH trios More... There were no significant differences in both genotype and a...... There were no significant differences in both genotype and allele frequencies in both of total samples and independently collected age-matched samples. TDT analysis also showed no association of the SNP to the illness. More... Negative

SNP related genes (count: 3)
Approved Symbol Approved Name Location No. of Studies (Positive/Negative/Trend)
IL4I1 interleukin 4 induced 1 19q13.3-q13.4 Mapped by Literature SNP
NUP62 nucleoporin 62kDa 19q13.33 Mapped by Literature SNP
ATF5 activating transcription factor 5 19q13.33 1(0/1/0)

SNPs in LD with rs8647 (count: 9) View in gBrowse (chr19:49907293..49940804 )
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: 9)

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

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