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rs121908072

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121908072(A;A)
Make rs121908072(A;G)
ReferenceGRCh38 38.1/141
Chromosome9
Position72816161
GeneTMC1
is asnp
is mentioned by
dbSNPrs121908072
ebirs121908072
HLIrs121908072
Exacrs121908072
Varsomers121908072
Maprs121908072
PheGenIrs121908072
hapmaprs121908072
1000 genomesrs121908072
hgdprs121908072
ensemblrs121908072
gopubmedrs121908072
geneviewrs121908072
scholarrs121908072
googlers121908072
pharmgkbrs121908072
gwascentralrs121908072
openSNPrs121908072
23andMers121908072
23andMe allrs121908072
SNP Nexus

SNPshotrs121908072
SNPdbers121908072
MSV3drs121908072
GWAS Ctlgrs121908072
Max Magnitude0
OMIM606706
Desc
Variant0001
Relatedalso
OMIM606706
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121908072(A,C;A,C)
Alt rs121908072(A,C;A,C)
Reference rs121908072(G;G)
Significance Pathogenic
Disease Deafness Non-syndromic genetic deafness
Variation info
Gene TMC1
CLNDBN Deafness, autosomal dominant 36 Non-syndromic genetic deafness
Reversed 0
HGVS NC_000009.11:g.75431077G>A; NC_000009.11:g.75431077G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000004318.2, RCV000217542.1, RCV000004321.2,