Have questions? Visit https://www.reddit.com/r/SNPedia

rs199473705

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs199473705(G;G)
Make rs199473705(G;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position3518587
GeneTRPV3
is asnp
is mentioned by
dbSNPrs199473705
ebirs199473705
HLIrs199473705
Exacrs199473705
Varsomers199473705
Maprs199473705
PheGenIrs199473705
hapmaprs199473705
1000 genomesrs199473705
hgdprs199473705
ensemblrs199473705
gopubmedrs199473705
geneviewrs199473705
scholarrs199473705
googlers199473705
pharmgkbrs199473705
gwascentralrs199473705
openSNPrs199473705
23andMers199473705
23andMe allrs199473705
SNP Nexus

SNPshotrs199473705
SNPdbers199473705
MSV3drs199473705
GWAS Ctlgrs199473705
Max Magnitude0
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 (variants)
CLNACC RCV000023613.3, RCV000059644.2,


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