rs199473705

Orientation

minus

Stabilized

minus

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

Make rs199473705(G;G)

Make rs199473705(G;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

3518587

Gene

TRPV3

is a	snp
is	mentioned by
dbSNP	rs199473705
dbSNP (classic)	rs199473705
ClinGen	rs199473705
ebi	rs199473705
HLI	rs199473705
Exac	rs199473705
Gnomad	rs199473705
Varsome	rs199473705
LitVar	rs199473705
Map	rs199473705
PheGenI	rs199473705
Biobank	rs199473705
1000 genomes	rs199473705
hgdp	rs199473705
ensembl	rs199473705
geneview	rs199473705
scholar	rs199473705
google	rs199473705
pharmgkb	rs199473705
gwascentral	rs199473705
openSNP	rs199473705
23andMe	rs199473705
SNPshot	rs199473705
SNPdbe	rs199473705
MSV3d	rs199473705
GWAS Ctlg	rs199473705

Max Magnitude

0

ClinVar
Risk	rs199473705(G;G)
Alt	rs199473705(G;G)
Reference	Rs199473705(T;T)
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.3421881A>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein) UniProtKB (variants)
CLNACC	RCV000023613.3, RCV000059644.2,

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