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rs121908329

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121908329(A;A)
Make rs121908329(A;C)
ReferenceGRCh38 38.1/141
Chromosome17
Position78124671
GeneTMC6
is asnp
is mentioned by
dbSNPrs121908329
ebirs121908329
HLIrs121908329
Exacrs121908329
Varsomers121908329
Maprs121908329
PheGenIrs121908329
hapmaprs121908329
1000 genomesrs121908329
hgdprs121908329
ensemblrs121908329
gopubmedrs121908329
geneviewrs121908329
scholarrs121908329
googlers121908329
pharmgkbrs121908329
gwascentralrs121908329
openSNPrs121908329
23andMers121908329
23andMe allrs121908329
SNP Nexus

SNPshotrs121908329
SNPdbers121908329
MSV3drs121908329
GWAS Ctlgrs121908329
Max Magnitude0
OMIM605828
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121908329(A;A)
Alt rs121908329(A;A)
Reference rs121908329(C;C)
Significance Pathogenic
Disease EPIDERMODYSPLASIA VERRUCIFORMIS
Variation info
Gene TMC6
CLNDBN EPIDERMODYSPLASIA VERRUCIFORMIS
Reversed 1
HGVS NC_000017.10:g.76120752G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000005016.3,