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rs370088722

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs370088722(T;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position72754817
GeneTMC1
is asnp
is mentioned by
dbSNPrs370088722
dbSNP (classic)rs370088722
ClinGenrs370088722
ebirs370088722
HLIrs370088722
Exacrs370088722
Gnomadrs370088722
Varsomers370088722
LitVarrs370088722
Maprs370088722
PheGenIrs370088722
Biobankrs370088722
1000 genomesrs370088722
hgdprs370088722
ensemblrs370088722
geneviewrs370088722
scholarrs370088722
googlers370088722
pharmgkbrs370088722
gwascentralrs370088722
openSNPrs370088722
23andMers370088722
SNPshotrs370088722
SNPdbers370088722
MSV3drs370088722
GWAS Ctlgrs370088722
Max Magnitude0
ClinVar
Risk rs370088722(T;T)
Alt rs370088722(T;T)
Reference Rs370088722(C;C)
Significance Pathogenic
Disease Nonsyndromic hearing loss and deafness Deafness
Variation info
Gene TMC1
CLNDBN Nonsyndromic hearing loss and deafness Deafness, autosomal recessive 7
Reversed 0
HGVS NC_000009.11:g.75369733C>T
CLNSRC ClinVar
CLNACC RCV000041146.3, RCV000225031.1,