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rs794729667

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs794729667(C;T)
Make rs794729667(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome8
Position20220382
GeneATP6V1B2
is asnp
is mentioned by
dbSNPrs794729667
ebirs794729667
HLIrs794729667
Exacrs794729667
Varsomers794729667
Maprs794729667
PheGenIrs794729667
hapmaprs794729667
1000 genomesrs794729667
hgdprs794729667
ensemblrs794729667
gopubmedrs794729667
geneviewrs794729667
scholarrs794729667
googlers794729667
pharmgkbrs794729667
gwascentralrs794729667
openSNPrs794729667
23andMers794729667
23andMe allrs794729667
SNP Nexus

SNPshotrs794729667
SNPdbers794729667
MSV3drs794729667
GWAS Ctlgrs794729667
Max Magnitude0
ClinVar
Risk rs794729667(T;T)
Alt rs794729667(T;T)
Reference rs794729667(C;C)
Significance Pathogenic
Disease Deafness
Variation info
Gene ATP6V1B2
CLNDBN Deafness, congenital, with onychodystrophy, autosomal dominant
Reversed 0
HGVS NC_000008.10:g.20077893C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000185602.3,