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rs878853230

From SNPedia

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


Make rs878853230(-;-)
ReferenceGRCh38.p2 38.2/147
Chromosome9
Position72694707
GeneTMC1
is asnp
is mentioned by
dbSNPrs878853230
dbSNP (classic)rs878853230
ClinGenrs878853230
ebirs878853230
HLIrs878853230
Exacrs878853230
Gnomadrs878853230
Varsomers878853230
LitVarrs878853230
Maprs878853230
PheGenIrs878853230
Biobankrs878853230
1000 genomesrs878853230
hgdprs878853230
ensemblrs878853230
geneviewrs878853230
scholarrs878853230
googlers878853230
pharmgkbrs878853230
gwascentralrs878853230
openSNPrs878853230
23andMers878853230
SNPshotrs878853230
SNPdbers878853230
MSV3drs878853230
GWAS Ctlgrs878853230
Max Magnitude3
ClinVar
Risk rs878853230(-;-)
Alt rs878853230(-;-)
Reference Rs878853230(A;A)
Significance Pathogenic
Disease Deafness
Variation info
Gene TMC1
CLNDBN Deafness, autosomal recessive 7
Reversed 0
HGVS NC_000009.11:g.75309623delA
CLNSRC
CLNACC RCV000225099.1,