rs281875214

plus

Geno	Mag	Summary
(A;A)	0	common in clinvar
(A;C)	4	Psoriasis mutation (likely to be causative)
(C;C)	4	Psoriasis mutation (likely to be causative)

Reference

GRCh38.p2 38.2/144

Chromosome

17

Position

80183976

Gene

CARD14

is a	snp
is	mentioned by
dbSNP	rs281875214
dbSNP (classic)	rs281875214
ClinGen	rs281875214
ebi	rs281875214
HLI	rs281875214
Exac	rs281875214
Gnomad	rs281875214
Varsome	rs281875214
LitVar	rs281875214
Map	rs281875214
PheGenI	rs281875214
Biobank	rs281875214
1000 genomes	rs281875214
hgdp	rs281875214
ensembl	rs281875214
geneview	rs281875214
scholar	rs281875214
google	rs281875214
pharmgkb	rs281875214
gwascentral	rs281875214
openSNP	rs281875214
23andMe	rs281875214
SNPshot	rs281875214
SNPdbe	rs281875214
MSV3d	rs281875214
GWAS Ctlg	rs281875214

Max Magnitude

4

rs281875214, also known as c.413A>C, p.Glu138Ala and E138A, 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	Rs281875214(C;C)
Alt	Rs281875214(C;C)
Reference	Rs281875214(A;A)
Significance	Pathogenic
Disease	Psoriasis 2 not provided
Variation	info
Gene	CARD14
CLNDBN	Psoriasis 2, pustular not provided
Reversed	0
HGVS	NC_000017.10:g.78157775A>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein) UniProtKB (variants)
CLNACC	RCV000024313.5, RCV000059699.1,