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rs121908932

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121908932(G;T)
Make rs121908932(T;T)
ReferenceGRCh38 38.1/141
Chromosome14
Position30889763
GeneCOCH, RPS4XP13
is asnp
is mentioned by
dbSNPrs121908932
ebirs121908932
HLIrs121908932
Exacrs121908932
Varsomers121908932
Maprs121908932
PheGenIrs121908932
hapmaprs121908932
1000 genomesrs121908932
hgdprs121908932
ensemblrs121908932
gopubmedrs121908932
geneviewrs121908932
scholarrs121908932
googlers121908932
pharmgkbrs121908932
gwascentralrs121908932
openSNPrs121908932
23andMers121908932
23andMe allrs121908932
SNP Nexus

SNPshotrs121908932
SNPdbers121908932
MSV3drs121908932
GWAS Ctlgrs121908932
Merged fromRs121908933
Max Magnitude0
OMIM603196
Desc
Variant0007
Relatedalso
ClinVar
Risk rs121908932(A,T;A,T)
Alt rs121908932(A,T;A,T)
Reference rs121908932(G;G)
Significance Pathogenic
Disease Deafness Non-syndromic genetic deafness
Variation info
Gene COCH LOC100506071
CLNDBN Deafness, autosomal dominant 9 Non-syndromic genetic deafness
Reversed 0
HGVS NC_000014.8:g.31358969G>A; NC_000014.8:g.31358969G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000006994.2, RCV000006993.2, RCV000214849.1,