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rs121908931

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121908931(A;A)
Make rs121908931(A;G)
ReferenceGRCh38 38.1/141
Chromosome14
Position30878926
GeneCOCH, RPS4XP13
is asnp
is mentioned by
dbSNPrs121908931
ebirs121908931
HLIrs121908931
Exacrs121908931
Varsomers121908931
Maprs121908931
PheGenIrs121908931
hapmaprs121908931
1000 genomesrs121908931
hgdprs121908931
ensemblrs121908931
gopubmedrs121908931
geneviewrs121908931
scholarrs121908931
googlers121908931
pharmgkbrs121908931
gwascentralrs121908931
openSNPrs121908931
23andMers121908931
23andMe allrs121908931
SNP Nexus

SNPshotrs121908931
SNPdbers121908931
MSV3drs121908931
GWAS Ctlgrs121908931
Max Magnitude0
OMIM603196
Desc
Variant0006
Relatedalso
ClinVar
Risk rs121908931(A;A)
Alt rs121908931(A;A)
Reference rs121908931(G;G)
Significance Pathogenic
Disease Deafness
Variation info
Gene COCH LOC100506071
CLNDBN Deafness, autosomal dominant 9
Reversed 0
HGVS NC_000014.8:g.31348132G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000006992.2,