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rs121908930

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121908930(A;A)
Make rs121908930(A;T)
ReferenceGRCh38 38.1/141
Chromosome14
Position30878897
GeneCOCH, RPS4XP13
is asnp
is mentioned by
dbSNPrs121908930
ebirs121908930
HLIrs121908930
Exacrs121908930
Varsomers121908930
Maprs121908930
PheGenIrs121908930
hapmaprs121908930
1000 genomesrs121908930
hgdprs121908930
ensemblrs121908930
gopubmedrs121908930
geneviewrs121908930
scholarrs121908930
googlers121908930
pharmgkbrs121908930
gwascentralrs121908930
openSNPrs121908930
23andMers121908930
23andMe allrs121908930
SNP Nexus

SNPshotrs121908930
SNPdbers121908930
MSV3drs121908930
GWAS Ctlgrs121908930
Max Magnitude0
OMIM603196
Desc
Variant0005
Relatedalso
ClinVar
Risk rs121908930(A;A)
Alt rs121908930(A;A)
Reference rs121908930(T;T)
Significance Pathogenic
Disease Deafness
Variation info
Gene COCH LOC100506071
CLNDBN Deafness, autosomal dominant 9
Reversed 0
HGVS NC_000014.8:g.31348103T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000006991.2,