rs587777763

plus

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

Reference

GRCh38.p2 38.2/144

Chromosome

17

Position

80182795

Gene

CARD14

is a	snp
is	mentioned by
dbSNP	rs587777763
dbSNP (classic)	rs587777763
ClinGen	rs587777763
ebi	rs587777763
HLI	rs587777763
Exac	rs587777763
Gnomad	rs587777763
Varsome	rs587777763
LitVar	rs587777763
Map	rs587777763
PheGenI	rs587777763
Biobank	rs587777763
1000 genomes	rs587777763
hgdp	rs587777763
ensembl	rs587777763
geneview	rs587777763
scholar	rs587777763
google	rs587777763
pharmgkb	rs587777763
gwascentral	rs587777763
openSNP	rs587777763
23andMe	rs587777763
SNPshot	rs587777763
SNPdbe	rs587777763
MSV3d	rs587777763
GWAS Ctlg	rs587777763

Max Magnitude

4

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 22521418 ]

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	RCV000024311.6,