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rs199473704

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199473704(A;A)
Make rs199473704(A;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position3524224
GeneTRPV3
is asnp
is mentioned by
dbSNPrs199473704
ebirs199473704
HLIrs199473704
Exacrs199473704
Varsomers199473704
Maprs199473704
PheGenIrs199473704
hapmaprs199473704
1000 genomesrs199473704
hgdprs199473704
ensemblrs199473704
gopubmedrs199473704
geneviewrs199473704
scholarrs199473704
googlers199473704
pharmgkbrs199473704
gwascentralrs199473704
openSNPrs199473704
23andMers199473704
23andMe allrs199473704
SNP Nexus

SNPshotrs199473704
SNPdbers199473704
MSV3drs199473704
GWAS Ctlgrs199473704
Max Magnitude0
ClinVar
Risk rs199473704(A,T;A,T)
Alt rs199473704(A,T;A,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 (variants)
CLNACC RCV000023612.3, RCV000059643.2, RCV000023611.3, RCV000059642.2,


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