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rs121908598

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121908598(C;G)
Make rs121908598(G;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position26458074
GeneOTOF
is asnp
is mentioned by
dbSNPrs121908598
ebirs121908598
HLIrs121908598
Exacrs121908598
Varsomers121908598
Maprs121908598
PheGenIrs121908598
hapmaprs121908598
1000 genomesrs121908598
hgdprs121908598
ensemblrs121908598
gopubmedrs121908598
geneviewrs121908598
scholarrs121908598
googlers121908598
pharmgkbrs121908598
gwascentralrs121908598
openSNPrs121908598
23andMers121908598
23andMe allrs121908598
SNP Nexus

SNPshotrs121908598
SNPdbers121908598
MSV3drs121908598
GWAS Ctlgrs121908598
Max Magnitude0
OMIM603681
Desc
Variant0009
Relatedalso
ClinVar
Risk rs121908598(G;G)
Alt rs121908598(G;G)
Reference rs121908598(C;C)
Significance Pathogenic
Disease Auditory neuropathy
Variation info
Gene OTOF
CLNDBN Auditory neuropathy, autosomal recessive, 1
Reversed 1
HGVS NC_000002.11:g.26680942G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000006515.2,