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rs121908073

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121908073(C;T)
Make rs121908073(T;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position72694578
GeneTMC1
is asnp
is mentioned by
dbSNPrs121908073
ebirs121908073
HLIrs121908073
Exacrs121908073
Varsomers121908073
Maprs121908073
PheGenIrs121908073
hapmaprs121908073
1000 genomesrs121908073
hgdprs121908073
ensemblrs121908073
gopubmedrs121908073
geneviewrs121908073
scholarrs121908073
googlers121908073
pharmgkbrs121908073
gwascentralrs121908073
openSNPrs121908073
23andMers121908073
23andMe allrs121908073
SNP Nexus

SNPshotrs121908073
SNPdbers121908073
MSV3drs121908073
GWAS Ctlgrs121908073
GMAF0.0004591
Max Magnitude0
OMIM606706
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121908073(T;T)
Alt rs121908073(T;T)
Reference rs121908073(C;C)
Significance Pathogenic
Disease Deafness Non-syndromic genetic deafness
Variation info
Gene TMC1
CLNDBN Deafness, autosomal recessive 7 Non-syndromic genetic deafness
Reversed 0
HGVS NC_000009.11:g.75309494C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000004319.4, RCV000211859.1,