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rs387906893

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387906893(C;T)
Make rs387906893(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position122216808
GeneDIABLO
is asnp
is mentioned by
dbSNPrs387906893
ebirs387906893
HLIrs387906893
Exacrs387906893
Varsomers387906893
Maprs387906893
PheGenIrs387906893
hapmaprs387906893
1000 genomesrs387906893
hgdprs387906893
ensemblrs387906893
gopubmedrs387906893
geneviewrs387906893
scholarrs387906893
googlers387906893
pharmgkbrs387906893
gwascentralrs387906893
openSNPrs387906893
23andMers387906893
23andMe allrs387906893
SNP Nexus

SNPshotrs387906893
SNPdbers387906893
MSV3drs387906893
GWAS Ctlgrs387906893
Max Magnitude0
ClinVar
Risk rs387906893(T;T)
Alt rs387906893(T;T)
Reference rs387906893(C;C)
Significance Pathogenic
Disease Deafness
Variation info
Gene DIABLO
CLNDBN Deafness, autosomal dominant 64
Reversed 1
HGVS NC_000012.11:g.122701355G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000023402.2,