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rs886044647

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Chromosome12
Position80302673
GeneOTOGL
is asnp
is mentioned by
dbSNPrs886044647
dbSNP (classic)rs886044647
ClinGenrs886044647
ebirs886044647
HLIrs886044647
Exacrs886044647
Gnomadrs886044647
Varsomers886044647
LitVarrs886044647
Maprs886044647
PheGenIrs886044647
Biobankrs886044647
1000 genomesrs886044647
hgdprs886044647
ensemblrs886044647
geneviewrs886044647
scholarrs886044647
googlers886044647
pharmgkbrs886044647
gwascentralrs886044647
openSNPrs886044647
23andMers886044647
SNPshotrs886044647
SNPdbers886044647
MSV3drs886044647
GWAS Ctlgrs886044647
Max Magnitude0
ClinVar
Risk rs886044647(T;T)
Alt rs886044647(T;T)
Reference Rs886044647(C;C)
Significance Pathogenic
Disease Deafness
Variation info
Gene OTOGL
CLNDBN Deafness, autosomal recessive 84b
Reversed 0
HGVS NC_000012.11:g.80696453C>T
CLNSRC
CLNACC RCV000280830.1,