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rs786205868

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs786205868(C;T)
Make rs786205868(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position3518644
GeneTRPV3
is asnp
is mentioned by
dbSNPrs786205868
ebirs786205868
HLIrs786205868
Exacrs786205868
Varsomers786205868
Maprs786205868
PheGenIrs786205868
hapmaprs786205868
1000 genomesrs786205868
hgdprs786205868
ensemblrs786205868
gopubmedrs786205868
geneviewrs786205868
scholarrs786205868
googlers786205868
pharmgkbrs786205868
gwascentralrs786205868
openSNPrs786205868
23andMers786205868
23andMe allrs786205868
SNP Nexus

SNPshotrs786205868
SNPdbers786205868
MSV3drs786205868
GWAS Ctlgrs786205868
Max Magnitude0
ClinVar
Risk rs786205868(T;T)
Alt rs786205868(T;T)
Reference rs786205868(C;C)
Significance Pathogenic
Disease Palmoplantar keratoderma
Variation info
Gene TRPV3
CLNDBN Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques
Reversed 1
HGVS NC_000017.10:g.3421938G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000172845.2,