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rs121908076

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;T) 3 Carrier of a DFNB7/11 deafness mutation
(T;T) 0 common in clinvar


Make rs121908076(C;C)
ReferenceGRCh38 38.1/141
Chromosome9
Position72792329
GeneTMC1
is asnp
is mentioned by
dbSNPrs121908076
dbSNP (classic)rs121908076
ClinGenrs121908076
ebirs121908076
HLIrs121908076
Exacrs121908076
Gnomadrs121908076
Varsomers121908076
LitVarrs121908076
Maprs121908076
PheGenIrs121908076
Biobankrs121908076
1000 genomesrs121908076
hgdprs121908076
ensemblrs121908076
geneviewrs121908076
scholarrs121908076
googlers121908076
pharmgkbrs121908076
gwascentralrs121908076
openSNPrs121908076
23andMers121908076
SNPshotrs121908076
SNPdbers121908076
MSV3drs121908076
GWAS Ctlgrs121908076
Max Magnitude3
OMIM606706
Desc
Variant0006
Relatedalso
ClinVar
Risk rs121908076(C;C)
Alt rs121908076(C;C)
Reference Rs121908076(T;T)
Significance Pathogenic
Disease Deafness
Variation info
Gene TMC1
CLNDBN Deafness, autosomal recessive 7
Reversed 0
HGVS NC_000009.11:g.75407245T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000004323.3,