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rs121908933

From SNPedia

Merged intors121908932
Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121908933(A;A)
Make rs121908933(A;G)
ReferenceGRCh38 38.1/141
Chromosome14
Position30889763
GeneCOCH, RPS4XP13
is asnp
is mentioned by
dbSNPrs121908933
dbSNP (classic)rs121908933
ClinGenrs121908933
ebirs121908933
HLIrs121908933
Exacrs121908933
Gnomadrs121908933
Varsomers121908933
LitVarrs121908933
Maprs121908933
PheGenIrs121908933
Biobankrs121908933
1000 genomesrs121908933
hgdprs121908933
ensemblrs121908933
geneviewrs121908933
scholarrs121908933
googlers121908933
pharmgkbrs121908933
gwascentralrs121908933
openSNPrs121908933
23andMers121908933
SNPshotrs121908933
SNPdbers121908933
MSV3drs121908933
GWAS Ctlgrs121908933
StatusMerged into rs121908932
Max Magnitude0
OMIM603196
Desc
Variant0008
Relatedalso
ClinVar
Risk rs121908933(A;A)
Alt rs121908933(A;A)
Reference Rs121908933(G;G)
Significance Pathogenic
Disease Deafness
Variation info
Gene COCH LOC100506071
CLNDBN Deafness, autosomal dominant 9
Reversed 0
HGVS NC_000014.8:g.31358969G>A
CLNSRC OMIM Allelic Variant
CLNACC SCV000027190.1,