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rs147321712

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs147321712(G;T)
Make rs147321712(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position26466731
GeneOTOF
is asnp
is mentioned by
dbSNPrs147321712
ebirs147321712
HLIrs147321712
Exacrs147321712
Varsomers147321712
Maprs147321712
PheGenIrs147321712
hapmaprs147321712
1000 genomesrs147321712
hgdprs147321712
ensemblrs147321712
gopubmedrs147321712
geneviewrs147321712
scholarrs147321712
googlers147321712
pharmgkbrs147321712
gwascentralrs147321712
openSNPrs147321712
23andMers147321712
23andMe allrs147321712
SNP Nexus

SNPshotrs147321712
SNPdbers147321712
MSV3drs147321712
GWAS Ctlgrs147321712
Max Magnitude0
ClinVar
Risk rs147321712(A,T;A,T)
Alt rs147321712(A,T;A,T)
Reference rs147321712(G;G)
Significance Pathogenic
Disease Deafness not specified
Variation info
Gene OTOF
CLNDBN Deafness, autosomal recessive 9 not specified
Reversed 0
HGVS NC_000002.11:g.26689599G>A; NC_000002.11:g.26689599G>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000056043.1, RCV000155254.1,