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rs281875215

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 4 Psoriasis mutation (likely to be causative)
(A;G) 4 Psoriasis mutation (likely to be causative)
(G;G) 0 common in clinvar
ReferenceGRCh38.p2 38.2/144
Chromosome17
Position80182790
GeneCARD14
is asnp
is mentioned by
dbSNPrs281875215
ebirs281875215
HLIrs281875215
Exacrs281875215
Varsomers281875215
Maprs281875215
PheGenIrs281875215
hapmaprs281875215
1000 genomesrs281875215
hgdprs281875215
ensemblrs281875215
gopubmedrs281875215
geneviewrs281875215
scholarrs281875215
googlers281875215
pharmgkbrs281875215
gwascentralrs281875215
openSNPrs281875215
23andMers281875215
23andMe allrs281875215
SNP Nexus

SNPshotrs281875215
SNPdbers281875215
MSV3drs281875215
GWAS Ctlgrs281875215
Max Magnitude4

rs281875215, also known as c.349G>A, p.Gly117Ser and G117S, represents a rare mutation in the CARD14 gene on chromosome 17.

This SNP is one of three CARD14 gain-of-function mutations found through sequencing families exhibiting autosomal dominantly inherited psoriasis.[PMID 22521418OA-icon.png]

ClinVar
Risk rs281875215(A;A)
Alt rs281875215(A;A)
Reference rs281875215(G;G)
Significance Pathogenic
Disease Psoriasis susceptibility 2 not provided
Variation info
Gene CARD14
CLNDBN Psoriasis susceptibility 2 not provided
Reversed 0
HGVS NC_000017.10:g.78156589G>A
CLNSRC OMIM Allelic Variant UniProtKB (variants)
CLNACC RCV000024310.5, RCV000059698.1,