Gene: GJB2 ×
Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1057517491
rs1057517491
GJB2
8 0.776 0.240 13 20189448 frameshift variant C/- delins 0.030 1.000 3 2008 2013
dbSNP: rs72561723
rs72561723
GJB2
7 0.790 0.240 13 20189448 missense variant C/T snv 8.0E-06 0.030 1.000 3 2008 2013
dbSNP: rs28929485
rs28929485
GJB2
7 0.807 0.320 13 20189532 missense variant G/A;C snv 0.010 1.000 1 2017 2017
dbSNP: rs28931594
rs28931594
GJB2
9 0.790 0.280 13 20189434 missense variant C/A;T snv 0.010 1.000 1 2013 2013