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rs111706634

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs111706634(C;T)
Make rs111706634(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position178456149
GeneDFNB59
is asnp
is mentioned by
dbSNPrs111706634
ebirs111706634
HLIrs111706634
Exacrs111706634
Varsomers111706634
Maprs111706634
PheGenIrs111706634
hapmaprs111706634
1000 genomesrs111706634
hgdprs111706634
ensemblrs111706634
gopubmedrs111706634
geneviewrs111706634
scholarrs111706634
googlers111706634
pharmgkbrs111706634
gwascentralrs111706634
openSNPrs111706634
23andMers111706634
23andMe allrs111706634
SNP Nexus

SNPshotrs111706634
SNPdbers111706634
MSV3drs111706634
GWAS Ctlgrs111706634
Max Magnitude0
OMIM610219
Desc
Variant0001
Relatedalso
ClinVar
Risk rs111706634(A,T;A,T)
Alt rs111706634(A,T;A,T)
Reference rs111706634(C;C)
Significance Pathogenic
Disease Deafness
Variation info
Gene DFNB59
CLNDBN Deafness, autosomal recessive 59
Reversed 0
HGVS NC_000002.11:g.179320876C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000001360.2,