BDgene

SNP Report

Basic Info
Name rs3810971 dbSNP Ensembl
Location chr22:50108237 - 50108237(1)
Variant Alleles C/T
Ancestral Allele C
Minor Allele T
Minor Allele Frequence 0.246805
Functional Annotation 3_prime_UTR_variant; downstream_gene_variant; missense_variant; NMD_transcript_variant.
Polyphen Annotation: probably damaging(ENST00000262794, ENST00000395858, ENST00000540615, ENST00000545383)
SIFT Annotation: deleterious(ENST00000262794, ENST00000395858, ENST00000540615, ENST00000545383)
Consequence to Transcript 3_prime_UTR_variant(ENST00000395854, ENST00000419054); downstream_gene_variant(ENST00000475190); missense_variant(ENST00000262794, ENST00000395858, ENST00000540615, ENST00000545383); NMD_transcript_variant(ENST00000395854, ENST00000419054)
No. of Studies 1 (Positive: 0; Negative: 1; Trend: 0)
Source Literature
Overlap with SZ? YES
Overlap with MDD? NO

SNP related studies (count: 1)
Reference Allele Change Risk Allele Statistical Values Author Comments Result Category
Severinsen, J. E., 2006 (b) C/T P-value = 0.5368 in BD, P-value = 0.9874 in BD and SZ P-value = 0.5368 in BD, P-value = 0.9874 in BD and SZ Negative

SNP related genes (count: 1)
Approved Symbol Approved Name Location No. of Studies (Positive/Negative/Trend)
MOV10L1 Mov10 RISC complex RNA helicase like 1 22q13.33 1(0/1/0)

SNPs in LD with rs3810971 (count: 56) View in gBrowse (chr22:50081762..50148438 )
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: 56)


Overlap with SZ from cross-disorder studies (count: 1)
Reference Statistical Result Description Result Category
Severinsen, J. E., 2006 (b) P-value = 0.3431 in SZ, P-value = 0.9874 in BD and SZ Negative

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