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rs786205869

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs786205869(A;C)
Make rs786205869(C;C)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position3524202
GeneTRPV3
is asnp
is mentioned by
dbSNPrs786205869
dbSNP (classic)rs786205869
ClinGenrs786205869
ebirs786205869
HLIrs786205869
Exacrs786205869
Gnomadrs786205869
Varsomers786205869
LitVarrs786205869
Maprs786205869
PheGenIrs786205869
Biobankrs786205869
1000 genomesrs786205869
hgdprs786205869
ensemblrs786205869
geneviewrs786205869
scholarrs786205869
googlers786205869
pharmgkbrs786205869
gwascentralrs786205869
openSNPrs786205869
23andMers786205869
SNPshotrs786205869
SNPdbers786205869
MSV3drs786205869
GWAS Ctlgrs786205869
Max Magnitude0
ClinVar
Risk rs786205869(C;C)
Alt rs786205869(C;C)
Reference Rs786205869(A;A)
Significance Pathogenic
Disease Palmoplantar keratoderma
Variation info
Gene TRPV3
CLNDBN Palmoplantar keratoderma, nonepidermolytic, focal 2
Reversed 1
HGVS NC_000017.10:g.3427496T>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000172846.2,