rs281875212

Orientation

plus

Stabilized

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

80183987

Gene

CARD14

is a	snp
is	mentioned by
dbSNP	rs281875212
dbSNP (classic)	rs281875212
ClinGen	rs281875212
ebi	rs281875212
HLI	rs281875212
Exac	rs281875212
Gnomad	rs281875212
Varsome	rs281875212
LitVar	rs281875212
Map	rs281875212
PheGenI	rs281875212
Biobank	rs281875212
1000 genomes	rs281875212
hgdp	rs281875212
ensembl	rs281875212
geneview	rs281875212
scholar	rs281875212
google	rs281875212
pharmgkb	rs281875212
gwascentral	rs281875212
openSNP	rs281875212
23andMe	rs281875212
SNPshot	rs281875212
SNPdbe	rs281875212
MSV3d	rs281875212
GWAS Ctlg	rs281875212

Max Magnitude

4

rs281875212, also known as c.424G>A, p.Glu142Lys and E142K, 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	Rs281875212(A;A) rs281875212(C;C)
Alt	Rs281875212(A;A) rs281875212(C;C)
Reference	Rs281875212(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.78157786G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein) UniProtKB (variants)
CLNACC	RCV000024314.4, RCV000059700.1,