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rs281875213

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;G) 4 Psoriasis mutation (likely to be causative)
(G;G) 4 Psoriasis mutation (likely to be causative)
ReferenceGRCh38.p2 38.2/144
Chromosome17
Position80183988
GeneCARD14
is asnp
is mentioned by
dbSNPrs281875213
ebirs281875213
HLIrs281875213
Exacrs281875213
Varsomers281875213
Maprs281875213
PheGenIrs281875213
hapmaprs281875213
1000 genomesrs281875213
hgdprs281875213
ensemblrs281875213
gopubmedrs281875213
geneviewrs281875213
scholarrs281875213
googlers281875213
pharmgkbrs281875213
gwascentralrs281875213
openSNPrs281875213
23andMers281875213
23andMe allrs281875213
SNP Nexus

SNPshotrs281875213
SNPdbers281875213
MSV3drs281875213
GWAS Ctlgrs281875213
Max Magnitude4

rs281875213, also known as c.425A>G, p.Glu142Gly and E142G, 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 rs281875213(G;G)
Alt rs281875213(G;G)
Reference rs281875213(A;A)
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.78157787A>G
CLNSRC OMIM Allelic Variant UniProtKB (variants)
CLNACC RCV000024312.4, RCV000059701.1,