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rs121908927

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121908927(G;G)
Make rs121908927(G;T)
ReferenceGRCh38 38.1/141
Chromosome14
Position30877686
GeneCOCH, LOC100506071
is asnp
is mentioned by
dbSNPrs121908927
dbSNP (classic)rs121908927
ClinGenrs121908927
ebirs121908927
HLIrs121908927
Exacrs121908927
Gnomadrs121908927
Varsomers121908927
LitVarrs121908927
Maprs121908927
PheGenIrs121908927
Biobankrs121908927
1000 genomesrs121908927
hgdprs121908927
ensemblrs121908927
geneviewrs121908927
scholarrs121908927
googlers121908927
pharmgkbrs121908927
gwascentralrs121908927
openSNPrs121908927
23andMers121908927
SNPshotrs121908927
SNPdbers121908927
MSV3drs121908927
GWAS Ctlgrs121908927
Max Magnitude0
OMIM603196
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121908927(C;C) rs121908927(G;G)
Alt rs121908927(C;C) rs121908927(G;G)
Reference Rs121908927(T;T)
Significance Pathogenic
Disease Deafness
Variation info
Gene COCH LOC100506071
CLNDBN Deafness, autosomal dominant 9
Reversed 0
HGVS NC_000014.8:g.31346892T>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000006987.4,