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rs771748289

From SNPedia

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


Make rs771748289(A;A)
ReferenceGRCh38.p2 38.2/144
Chromosome13
Position20188986
GeneGJB2
is asnp
is mentioned by
dbSNPrs771748289
dbSNP (old)rs771748289
ClinGenrs771748289
ebirs771748289
HLIrs771748289
Exacrs771748289
Varsomers771748289
Maprs771748289
PheGenIrs771748289
Biobankrs771748289
1000 genomesrs771748289
hgdprs771748289
ensemblrs771748289
gopubmedrs771748289
geneviewrs771748289
scholarrs771748289
googlers771748289
pharmgkbrs771748289
gwascentralrs771748289
openSNPrs771748289
23andMers771748289
23andMe allrs771748289
SNP Nexus

SNPshotrs771748289
SNPdbers771748289
MSV3drs771748289
GWAS Ctlgrs771748289
Max Magnitude3
ClinVar
Risk rs771748289(A;A)
Alt rs771748289(A;A)
Reference Rs771748289(G;G)
Significance Probable-Pathogenic
Disease Deafness
Variation info
Gene GJB2
CLNDBN Deafness, autosomal recessive 1A
Reversed 0
HGVS NC_000013.10:g.20763125G>A
CLNSRC
CLNACC RCV000169613.1,