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rs121908928

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121908928(A;A)
Make rs121908928(A;G)
ReferenceGRCh38 38.1/141
Chromosome14
Position30878834
GeneCOCH, LOC100506071
is asnp
is mentioned by
dbSNPrs121908928
dbSNP (classic)rs121908928
ClinGenrs121908928
ebirs121908928
HLIrs121908928
Exacrs121908928
Gnomadrs121908928
Varsomers121908928
LitVarrs121908928
Maprs121908928
PheGenIrs121908928
Biobankrs121908928
1000 genomesrs121908928
hgdprs121908928
ensemblrs121908928
geneviewrs121908928
scholarrs121908928
googlers121908928
pharmgkbrs121908928
gwascentralrs121908928
openSNPrs121908928
23andMers121908928
SNPshotrs121908928
SNPdbers121908928
MSV3drs121908928
GWAS Ctlgrs121908928
Max Magnitude0
OMIM603196
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121908928(A;A) rs121908928(T;T)
Alt rs121908928(A;A) rs121908928(T;T)
Reference Rs121908928(G;G)
Significance Pathogenic
Disease Deafness not specified
Variation info
Gene COCH LOC100506071
CLNDBN Deafness, autosomal dominant 9 not specified
Reversed 0
HGVS NC_000014.8:g.31348040G>A; NC_000014.8:g.31348040G>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000006988.4, RCV000155766.1,