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rs121908929

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121908929(C;C)
Make rs121908929(C;T)
ReferenceGRCh38 38.1/141
Chromosome14
Position30878920
GeneCOCH, LOC100506071
is asnp
is mentioned by
dbSNPrs121908929
dbSNP (classic)rs121908929
ClinGenrs121908929
ebirs121908929
HLIrs121908929
Exacrs121908929
Gnomadrs121908929
Varsomers121908929
LitVarrs121908929
Maprs121908929
PheGenIrs121908929
Biobankrs121908929
1000 genomesrs121908929
hgdprs121908929
ensemblrs121908929
geneviewrs121908929
scholarrs121908929
googlers121908929
pharmgkbrs121908929
gwascentralrs121908929
openSNPrs121908929
23andMers121908929
SNPshotrs121908929
SNPdbers121908929
MSV3drs121908929
GWAS Ctlgrs121908929
Max Magnitude0
OMIM603196
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121908929(C;C)
Alt rs121908929(C;C)
Reference Rs121908929(T;T)
Significance Pathogenic
Disease Deafness
Variation info
Gene COCH LOC100506071
CLNDBN Deafness, autosomal dominant 9
Reversed 0
HGVS NC_000014.8:g.31348126T>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000006989.4,