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rs878853229

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;A) 3 Carrier of a DFNB7/11 deafness mutation
Make rs878853229(A;A)
ReferenceGRCh38.p2 38.2/147
Chromosome9
Position72648663
GeneTMC1
is asnp
is mentioned by
dbSNPrs878853229
dbSNP (classic)rs878853229
ClinGenrs878853229
ebirs878853229
HLIrs878853229
Exacrs878853229
Gnomadrs878853229
Varsomers878853229
LitVarrs878853229
Maprs878853229
PheGenIrs878853229
Biobankrs878853229
1000 genomesrs878853229
hgdprs878853229
ensemblrs878853229
geneviewrs878853229
scholarrs878853229
googlers878853229
pharmgkbrs878853229
gwascentralrs878853229
openSNPrs878853229
23andMers878853229
SNPshotrs878853229
SNPdbers878853229
MSV3drs878853229
GWAS Ctlgrs878853229
Max Magnitude3
ClinVar
Risk rs878853229(A;A)
Alt rs878853229(A;A)
Reference Rs878853229(-;-)
Significance Pathogenic
Disease Deafness
Variation info
Gene TMC1
CLNDBN Deafness, autosomal recessive 7
Reversed 0
HGVS NC_000009.11:g.75263579dupA
CLNSRC
CLNACC RCV000225071.1,