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rs529500747

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;G) 3 Carrier of a recessive deafness mutation
(G;G) 0 common/normal


Make rs529500747(A;A)
ReferenceGRCh38.p2 38.2/147
Chromosome13
Position20189559
GeneGJB2
is asnp
is mentioned by
dbSNPrs529500747
dbSNP (old)rs529500747
ClinGenrs529500747
ebirs529500747
HLIrs529500747
Exacrs529500747
Gnomadrs529500747
Varsomers529500747
Maprs529500747
PheGenIrs529500747
Biobankrs529500747
1000 genomesrs529500747
hgdprs529500747
ensemblrs529500747
gopubmedrs529500747
geneviewrs529500747
scholarrs529500747
googlers529500747
pharmgkbrs529500747
gwascentralrs529500747
openSNPrs529500747
23andMers529500747
23andMe allrs529500747
SNP Nexus

SNPshotrs529500747
SNPdbers529500747
MSV3drs529500747
GWAS Ctlgrs529500747
Max Magnitude3
ClinVar
Risk rs529500747(A;A)
Alt rs529500747(A;A)
Reference Rs529500747(G;G)
Significance Pathogenic
Disease not provided
Variation info
Gene GJB2
CLNDBN not provided
Reversed 0
HGVS NC_000013.10:g.20763698G>A
CLNSRC
CLNACC RCV000429597.1,