Have questions? Visit https://www.reddit.com/r/SNPedia

rs781534323

From SNPedia

Orientationplus
Geno Mag Summary
(C;G) 3 Carrier of a recessive deafness mutation
(G;G) 0 common in clinvar


Make rs781534323(C;C)
ReferenceGRCh38.p2 38.2/144
Chromosome13
Position20189336
GeneGJB2
is asnp
is mentioned by
dbSNPrs781534323
ebirs781534323
HLIrs781534323
Exacrs781534323
Varsomers781534323
Maprs781534323
PheGenIrs781534323
hapmaprs781534323
1000 genomesrs781534323
hgdprs781534323
ensemblrs781534323
gopubmedrs781534323
geneviewrs781534323
scholarrs781534323
googlers781534323
pharmgkbrs781534323
gwascentralrs781534323
openSNPrs781534323
23andMers781534323
23andMe allrs781534323
SNP Nexus

SNPshotrs781534323
SNPdbers781534323
MSV3drs781534323
GWAS Ctlgrs781534323
Max Magnitude3
ClinVar
Risk rs781534323(C;C)
Alt rs781534323(C;C)
Reference rs781534323(G;G)
Significance Probable-Pathogenic
Disease Deafness
Variation info
Gene GJB2
CLNDBN Deafness, autosomal recessive 1A
Reversed 0
HGVS NC_000013.10:g.20763475G>C
CLNSRC
CLNACC RCV000169070.1,