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rs878853240

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs878853240(C;C)
Make rs878853240(C;T)
ReferenceGRCh38.p2 38.2/147
Chromosome9
Position72789303
GeneTMC1
is asnp
is mentioned by
dbSNPrs878853240
dbSNP (classic)rs878853240
ClinGenrs878853240
ebirs878853240
HLIrs878853240
Exacrs878853240
Gnomadrs878853240
Varsomers878853240
LitVarrs878853240
Maprs878853240
PheGenIrs878853240
Biobankrs878853240
1000 genomesrs878853240
hgdprs878853240
ensemblrs878853240
geneviewrs878853240
scholarrs878853240
googlers878853240
pharmgkbrs878853240
gwascentralrs878853240
openSNPrs878853240
23andMers878853240
SNPshotrs878853240
SNPdbers878853240
MSV3drs878853240
GWAS Ctlgrs878853240
Max Magnitude0
ClinVar
Risk rs878853240(C;C)
Alt rs878853240(C;C)
Reference Rs878853240(T;T)
Significance Pathogenic
Disease Deafness
Variation info
Gene TMC1
CLNDBN Deafness, autosomal recessive 7
Reversed 0
HGVS NC_000009.11:g.75404219T>C
CLNSRC
CLNACC RCV000225096.1,