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rs121908330

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121908330(G;T)
Make rs121908330(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position78134966
GeneTMC8
is asnp
is mentioned by
dbSNPrs121908330
ebirs121908330
HLIrs121908330
Exacrs121908330
Varsomers121908330
Maprs121908330
PheGenIrs121908330
hapmaprs121908330
1000 genomesrs121908330
hgdprs121908330
ensemblrs121908330
gopubmedrs121908330
geneviewrs121908330
scholarrs121908330
googlers121908330
pharmgkbrs121908330
gwascentralrs121908330
openSNPrs121908330
23andMers121908330
23andMe allrs121908330
SNP Nexus

SNPshotrs121908330
SNPdbers121908330
MSV3drs121908330
GWAS Ctlgrs121908330
Max Magnitude0
OMIM605829
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121908330(A,T;A,T)
Alt rs121908330(A,T;A,T)
Reference rs121908330(G;G)
Significance Pathogenic
Disease EPIDERMODYSPLASIA VERRUCIFORMIS
Variation info
Gene TMC8
CLNDBN EPIDERMODYSPLASIA VERRUCIFORMIS
Reversed 0
HGVS NC_000017.10:g.76131047G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000005013.2,