BDgene

SNP Report

Basic Info
Name rs2272843 dbSNP Ensembl
Location chr22:50161037 - 50161037(1)
Variant Alleles C/A
Ancestral Allele A
Minor Allele A
Minor Allele Frequence 0.124601
Functional Annotation downstream_gene_variant; intron_variant; missense_variant.
Polyphen Annotation: benign(ENST00000262794, ENST00000395852, ENST00000395858, ENST00000545383)
SIFT Annotation: tolerated(ENST00000262794, ENST00000395852, ENST00000395858, ENST00000545383)
Consequence to Transcript downstream_gene_variant(ENST00000354853); intron_variant(ENST00000540615); missense_variant(ENST00000262794, ENST00000395852, ENST00000395858, ENST00000545383)
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/A P-value = 0.5064 in BD, P-value = 0.3018 in BD and SZ P-value = 0.5064 in BD, P-value = 0.3018 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 rs2272843 (count: 15) View in gBrowse (chr22:50071488..50168982 )
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: 15)


Overlap with SZ from cross-disorder studies (count: 1)
Reference Statistical Result Description Result Category
Severinsen, J. E., 2006 (b) P-value = 0.2701 in SZ, P-value = 0.3018 in BD and SZ Negative

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