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rs74315318

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs74315318(A;A)
Make rs74315318(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position34785309
GeneGJB3
is asnp
is mentioned by
dbSNPrs74315318
ebirs74315318
HLIrs74315318
Exacrs74315318
Varsomers74315318
Maprs74315318
PheGenIrs74315318
hapmaprs74315318
1000 genomesrs74315318
hgdprs74315318
ensemblrs74315318
gopubmedrs74315318
geneviewrs74315318
scholarrs74315318
googlers74315318
pharmgkbrs74315318
gwascentralrs74315318
openSNPrs74315318
23andMers74315318
23andMe allrs74315318
SNP Nexus

SNPshotrs74315318
SNPdbers74315318
MSV3drs74315318
GWAS Ctlgrs74315318
GMAF0.001837
Max Magnitude0
OMIM603324
Desc
Variant0004
Relatedalso
ClinVar
Risk rs74315318(A;A)
Alt rs74315318(A;A)
Reference rs74315318(G;G)
Significance Pathogenic
Disease Deafness not provided
Variation info
Gene GJB3
CLNDBN Deafness, autosomal dominant 2b not provided
Reversed 0
HGVS NC_000001.10:g.35250910G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000006858.4, RCV000175942.1,