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rs199848801

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199848801(A;A)
Make rs199848801(A;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position26473999
GeneOTOF
is asnp
is mentioned by
dbSNPrs199848801
dbSNP (classic)rs199848801
ClinGenrs199848801
ebirs199848801
HLIrs199848801
Exacrs199848801
Gnomadrs199848801
Varsomers199848801
LitVarrs199848801
Maprs199848801
PheGenIrs199848801
Biobankrs199848801
1000 genomesrs199848801
hgdprs199848801
ensemblrs199848801
geneviewrs199848801
scholarrs199848801
googlers199848801
pharmgkbrs199848801
gwascentralrs199848801
openSNPrs199848801
23andMers199848801
SNPshotrs199848801
SNPdbers199848801
MSV3drs199848801
GWAS Ctlgrs199848801
GMAF0.0004591
Max Magnitude0
ClinVar
Risk rs199848801(A;A)
Alt rs199848801(A;A)
Reference Rs199848801(G;G)
Significance Pathogenic
Disease Deafness
Variation info
Gene OTOF
CLNDBN Deafness, autosomal recessive 9
Reversed 0
HGVS NC_000002.11:g.26696867G>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000056037.1,