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rs587777763

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
Position80182795
GeneCARD14
is asnp
is mentioned by
dbSNPrs587777763
ebirs587777763
HLIrs587777763
Exacrs587777763
Varsomers587777763
Maprs587777763
PheGenIrs587777763
hapmaprs587777763
1000 genomesrs587777763
hgdprs587777763
ensemblrs587777763
gopubmedrs587777763
geneviewrs587777763
scholarrs587777763
googlers587777763
pharmgkbrs587777763
gwascentralrs587777763
openSNPrs587777763
23andMers587777763
23andMe allrs587777763
SNP Nexus

SNPshotrs587777763
SNPdbers587777763
MSV3drs587777763
GWAS Ctlgrs587777763
Max Magnitude4

rs587777763, also known as c.349+5G>A, 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 rs587777763(A;A)
Alt rs587777763(A;A)
Reference rs587777763(G;G)
Significance Pathogenic
Disease Psoriasis susceptibility 2
Variation info
Gene CARD14
CLNDBN Psoriasis susceptibility 2
Reversed 0
HGVS NC_000017.10:g.78156594G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000024311.5,