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rs121908327

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121908327(C;T)
Make rs121908327(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position78125876
GeneTMC6
is asnp
is mentioned by
dbSNPrs121908327
dbSNP (classic)rs121908327
ClinGenrs121908327
ebirs121908327
HLIrs121908327
Exacrs121908327
Gnomadrs121908327
Varsomers121908327
LitVarrs121908327
Maprs121908327
PheGenIrs121908327
Biobankrs121908327
1000 genomesrs121908327
hgdprs121908327
ensemblrs121908327
geneviewrs121908327
scholarrs121908327
googlers121908327
pharmgkbrs121908327
gwascentralrs121908327
openSNPrs121908327
23andMers121908327
SNPshotrs121908327
SNPdbers121908327
MSV3drs121908327
GWAS Ctlgrs121908327
Max Magnitude0
OMIM605828
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121908327(T;T)
Alt rs121908327(T;T)
Reference Rs121908327(C;C)
Significance Pathogenic
Disease EPIDERMODYSPLASIA VERRUCIFORMIS
Variation info
Gene TMC6
CLNDBN EPIDERMODYSPLASIA VERRUCIFORMIS
Reversed 1
HGVS NC_000017.10:g.76121957G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000005014.3,