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rs281875214

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;C) 4 Psoriasis mutation (likely to be causative)
(C;C) 4 Psoriasis mutation (likely to be causative)
ReferenceGRCh38.p2 38.2/144
Chromosome17
Position80183976
GeneCARD14
is asnp
is mentioned by
dbSNPrs281875214
ebirs281875214
HLIrs281875214
Exacrs281875214
Varsomers281875214
Maprs281875214
PheGenIrs281875214
hapmaprs281875214
1000 genomesrs281875214
hgdprs281875214
ensemblrs281875214
gopubmedrs281875214
geneviewrs281875214
scholarrs281875214
googlers281875214
pharmgkbrs281875214
gwascentralrs281875214
openSNPrs281875214
23andMers281875214
23andMe allrs281875214
SNP Nexus

SNPshotrs281875214
SNPdbers281875214
MSV3drs281875214
GWAS Ctlgrs281875214
Max Magnitude4

rs281875214, also known as c.413A>C, p.Glu138Ala and E138A, 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 rs281875214(C;C)
Alt rs281875214(C;C)
Reference rs281875214(A;A)
Significance Pathogenic
Disease Psoriasis 2 not provided
Variation info
Gene CARD14
CLNDBN Psoriasis 2, pustular not provided
Reversed 0
HGVS NC_000017.10:g.78157775A>C
CLNSRC OMIM Allelic Variant UniProtKB (variants)
CLNACC RCV000024313.5, RCV000059699.1,