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rs151001642

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 Carrier of a DFNB7/11 deafness mutation
Make rs151001642(T;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position72789258
GeneTMC1
is asnp
is mentioned by
dbSNPrs151001642
dbSNP (classic)rs151001642
ClinGenrs151001642
ebirs151001642
HLIrs151001642
Exacrs151001642
Gnomadrs151001642
Varsomers151001642
LitVarrs151001642
Maprs151001642
PheGenIrs151001642
Biobankrs151001642
1000 genomesrs151001642
hgdprs151001642
ensemblrs151001642
geneviewrs151001642
scholarrs151001642
googlers151001642
pharmgkbrs151001642
gwascentralrs151001642
openSNPrs151001642
23andMers151001642
SNPshotrs151001642
SNPdbers151001642
MSV3drs151001642
GWAS Ctlgrs151001642
Max Magnitude3
ClinVar
Risk rs151001642(T;T)
Alt rs151001642(T;T)
Reference Rs151001642(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.75404174C>T
CLNSRC ClinVar
CLNACC RCV000041126.2, RCV000225055.1,