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rs367924428

From SNPedia

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


Make rs367924428(A;A)
ReferenceGRCh38.p7 38.3/149
Chromosome9
Position72789207
GeneTMC1
is asnp
is mentioned by
dbSNPrs367924428
dbSNP (classic)rs367924428
ClinGenrs367924428
ebirs367924428
HLIrs367924428
Exacrs367924428
Gnomadrs367924428
Varsomers367924428
LitVarrs367924428
Maprs367924428
PheGenIrs367924428
Biobankrs367924428
1000 genomesrs367924428
hgdprs367924428
ensemblrs367924428
geneviewrs367924428
scholarrs367924428
googlers367924428
pharmgkbrs367924428
gwascentralrs367924428
openSNPrs367924428
23andMers367924428
SNPshotrs367924428
SNPdbers367924428
MSV3drs367924428
GWAS Ctlgrs367924428
Max Magnitude3
ClinVar
Risk rs367924428(A;A)
Alt rs367924428(A;A)
Reference Rs367924428(G;G)
Significance Probable-Pathogenic
Disease Deafness
Variation info
Gene TMC1
CLNDBN Deafness, autosomal recessive 7
Reversed 0
HGVS NC_000009.11:g.75404123G>A
CLNSRC
CLNACC RCV000268431.1,