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rs773528125

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;CGTT) 3 Carrier of a recessive deafness mutation
(D;D) 0 common genotype
Make rs773528125(CGTT;CGTT)
ReferenceGRCh38.p2 38.2/144
Chromosome13
Position20189070
GeneGJB2
is asnp
is mentioned by
dbSNPrs773528125
dbSNP (classic)rs773528125
ClinGenrs773528125
ebirs773528125
HLIrs773528125
Exacrs773528125
Gnomadrs773528125
Varsomers773528125
LitVarrs773528125
Maprs773528125
PheGenIrs773528125
Biobankrs773528125
1000 genomesrs773528125
hgdprs773528125
ensemblrs773528125
geneviewrs773528125
scholarrs773528125
googlers773528125
pharmgkbrs773528125
gwascentralrs773528125
openSNPrs773528125
23andMers773528125
SNPshotrs773528125
SNPdbers773528125
MSV3drs773528125
GWAS Ctlgrs773528125
Max Magnitude3
ClinVar
Risk rs773528125(CGTT;CGTT)
Alt rs773528125(CGTT;CGTT)
Reference Rs773528125(-;-)
Significance Other
Disease Deafness
Variation info
Gene GJB2
CLNDBN Deafness, autosomal recessive 1A
Reversed 0
HGVS NC_000013.10:g.20763210_20763213dupCGTT
CLNSRC
CLNACC RCV000169473.3,