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rs28937591

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(G;G) 3 deafness expected
Make rs28937591(C;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position26461756
GeneOTOF
is asnp
is mentioned by
dbSNPrs28937591
ebirs28937591
HLIrs28937591
Exacrs28937591
Varsomers28937591
Maprs28937591
PheGenIrs28937591
hapmaprs28937591
1000 genomesrs28937591
hgdprs28937591
ensemblrs28937591
gopubmedrs28937591
geneviewrs28937591
scholarrs28937591
googlers28937591
pharmgkbrs28937591
gwascentralrs28937591
openSNPrs28937591
23andMers28937591
23andMe allrs28937591
SNP Nexus

SNPshotrs28937591
SNPdbers28937591
MSV3drs28937591
GWAS Ctlgrs28937591
Max Magnitude3
deafness
OMIM603681
DescDEAFNESS, AUTOSOMAL RECESSIVE 9
Variant0005
Relatedalso


ClinVar
Risk rs28937591(G;G)
Alt rs28937591(G;G)
Reference rs28937591(C;C)
Significance Pathogenic
Disease Deafness
Variation info
Gene OTOF
CLNDBN Deafness, autosomal recessive 9
Reversed 1
HGVS NC_000002.11:g.26684624G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000006512.2,



[PMID 12114484OA-icon.png] Q829X, a novel mutation in the gene encoding otoferlin (OTOF), is frequently found in Spanish patients with prelingual non-syndromic hearing loss.