rs281875213

Orientation

plus

Stabilized

plus

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)

Reference

GRCh38.p2 38.2/144

Chromosome

17

Position

80183988

Gene

CARD14

is a	snp
is	mentioned by
dbSNP	rs281875213
dbSNP (classic)	rs281875213
ClinGen	rs281875213
ebi	rs281875213
HLI	rs281875213
Exac	rs281875213
Gnomad	rs281875213
Varsome	rs281875213
LitVar	rs281875213
Map	rs281875213
PheGenI	rs281875213
Biobank	rs281875213
1000 genomes	rs281875213
hgdp	rs281875213
ensembl	rs281875213
geneview	rs281875213
scholar	rs281875213
google	rs281875213
pharmgkb	rs281875213
gwascentral	rs281875213
openSNP	rs281875213
23andMe	rs281875213
SNPshot	rs281875213
SNPdbe	rs281875213
MSV3d	rs281875213
GWAS Ctlg	rs281875213

Max Magnitude

4

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 22521419]

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 (protein) UniProtKB (variants)
CLNACC	RCV000024312.5, RCV000059701.1,