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rs797045596

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(-;GAAGTTCATCAAGGGG) 3 Carrier of a recessive deafness mutation
(AGTTCATCAAGGGGGA;AGTTCATCAAGGGGGA) 0 common in clinvar
Make rs797045596(-;-)
Make rs797045596(GAAGTTCATCAAGGGG;GAAGTTCATCAAGGGG)
ReferenceGRCh38.p2 38.2/146
Chromosome13
Position20189255
GeneGJB2
is asnp
is mentioned by
dbSNPrs797045596
dbSNP (old)rs797045596
ClinGenrs797045596
ebirs797045596
HLIrs797045596
Exacrs797045596
Gnomadrs797045596
Varsomers797045596
Maprs797045596
PheGenIrs797045596
Biobankrs797045596
1000 genomesrs797045596
hgdprs797045596
ensemblrs797045596
gopubmedrs797045596
geneviewrs797045596
scholarrs797045596
googlers797045596
pharmgkbrs797045596
gwascentralrs797045596
openSNPrs797045596
23andMers797045596
23andMe allrs797045596
SNPshotrs797045596
SNPdbers797045596
MSV3drs797045596
GWAS Ctlgrs797045596
Max Magnitude3
ClinVar
Risk rs797045596(-;-)
Alt rs797045596(-;-)
Reference Rs797045596(AGTTCATCAAGGGGGA;AGTTCATCAAGGGGGA)
Significance Pathogenic
Disease Deafness
Variation info
Gene GJB2
CLNDBN Deafness, autosomal recessive 1A
Reversed 1
HGVS NC_000013.10:g.20763394_20763409del16
CLNSRC
CLNACC RCV000194203.1,