rs281875215

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

80182790

Gene

CARD14

is a	snp
is	mentioned by
dbSNP	rs281875215
dbSNP (classic)	rs281875215
ClinGen	rs281875215
ebi	rs281875215
HLI	rs281875215
Exac	rs281875215
Gnomad	rs281875215
Varsome	rs281875215
LitVar	rs281875215
Map	rs281875215
PheGenI	rs281875215
Biobank	rs281875215
1000 genomes	rs281875215
hgdp	rs281875215
ensembl	rs281875215
geneview	rs281875215
scholar	rs281875215
google	rs281875215
pharmgkb	rs281875215
gwascentral	rs281875215
openSNP	rs281875215
23andMe	rs281875215
SNPshot	rs281875215
SNPdbe	rs281875215
MSV3d	rs281875215
GWAS Ctlg	rs281875215

Max Magnitude

4

rs281875215, also known as c.349G>A, p.Gly117Ser and G117S, 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	Rs281875215(A;A)
Alt	Rs281875215(A;A)
Reference	Rs281875215(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.78156589G>A
CLNSRC	OMIM Allelic Variant UniProtKB (variants)
CLNACC	RCV000024310.6, RCV000059698.1,