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rs74315319

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs74315319(C;T)
Make rs74315319(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position34785300
GeneGJB3
is asnp
is mentioned by
dbSNPrs74315319
ebirs74315319
HLIrs74315319
Exacrs74315319
Varsomers74315319
Maprs74315319
PheGenIrs74315319
hapmaprs74315319
1000 genomesrs74315319
hgdprs74315319
ensemblrs74315319
gopubmedrs74315319
geneviewrs74315319
scholarrs74315319
googlers74315319
pharmgkbrs74315319
gwascentralrs74315319
openSNPrs74315319
23andMers74315319
23andMe allrs74315319
SNP Nexus

SNPshotrs74315319
SNPdbers74315319
MSV3drs74315319
GWAS Ctlgrs74315319
GMAF0.0004591
Max Magnitude0
OMIM603324
Desc
Variant0005
Relatedalso
ClinVar
Risk rs74315319(T;T)
Alt rs74315319(T;T)
Reference rs74315319(C;C)
Significance Pathogenic
Disease Deafness not specified
Variation info
Gene GJB3
CLNDBN Deafness, autosomal dominant 2b not specified
Reversed 0
HGVS NC_000001.10:g.35250901C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000006859.3, RCV000150742.1,