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rs281875212

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
Position80183987
GeneCARD14
is asnp
is mentioned by
dbSNPrs281875212
ebirs281875212
HLIrs281875212
Exacrs281875212
Varsomers281875212
Maprs281875212
PheGenIrs281875212
hapmaprs281875212
1000 genomesrs281875212
hgdprs281875212
ensemblrs281875212
gopubmedrs281875212
geneviewrs281875212
scholarrs281875212
googlers281875212
pharmgkbrs281875212
gwascentralrs281875212
openSNPrs281875212
23andMers281875212
23andMe allrs281875212
SNP Nexus

SNPshotrs281875212
SNPdbers281875212
MSV3drs281875212
GWAS Ctlgrs281875212
Max Magnitude4

rs281875212, also known as c.424G>A, p.Glu142Lys and E142K, represents a rare mutation in the CARD14 gene on chromosome 17.

This SNP is a CARD14 gain-of-function mutation reported in families with autosomal dominantly inherited psoriasis.[PMID 22521419OA-icon.png]

ClinVar
Risk rs281875212(A,C;A,C)
Alt rs281875212(A,C;A,C)
Reference rs281875212(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.78157786G>A
CLNSRC OMIM Allelic Variant UniProtKB (variants)
CLNACC RCV000024314.4, RCV000059700.1,