rs199473704

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(G;G)	0	common in clinvar

Make rs199473704(A;A)

Make rs199473704(A;G)

Reference

GRCh38 38.1/141

Chromosome

17

Position

3524224

Gene

TRPV3

is a	snp
is	mentioned by
dbSNP	rs199473704
dbSNP (classic)	rs199473704
ClinGen	rs199473704
ebi	rs199473704
HLI	rs199473704
Exac	rs199473704
Gnomad	rs199473704
Varsome	rs199473704
LitVar	rs199473704
Map	rs199473704
PheGenI	rs199473704
Biobank	rs199473704
1000 genomes	rs199473704
hgdp	rs199473704
ensembl	rs199473704
geneview	rs199473704
scholar	rs199473704
google	rs199473704
pharmgkb	rs199473704
gwascentral	rs199473704
openSNP	rs199473704
23andMe	rs199473704
SNPshot	rs199473704
SNPdbe	rs199473704
MSV3d	rs199473704
GWAS Ctlg	rs199473704

Max Magnitude

0

ClinVar
Risk	rs199473704(A;A) rs199473704(T;T)
Alt	rs199473704(A;A) rs199473704(T;T)
Reference	Rs199473704(G;G)
Significance	Pathogenic
Disease	Palmoplantar keratoderma not provided
Variation	info
Gene	TRPV3
CLNDBN	Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques not provided
Reversed	1
HGVS	NC_000017.10:g.3427518C>A; NC_000017.10:g.3427518C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein) UniProtKB (variants)
CLNACC	RCV000023612.3, RCV000059643.2, RCV000023611.3, RCV000059642.2,

[PMID 22405088] Exome sequencing reveals mutations in TRPV3 as a cause of Olmsted syndrome.