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: rs104894408
rs104894408
GJB2
13 0.742 0.280 13 20189548 missense variant C/A;G snv 5.1E-04 0.850 1.000 8 2002 2018
dbSNP: rs752478137
rs752478137
IL23R ; C1orf141
2 0.925 0.240 1 67168187 missense variant G/A snv 4.0E-06 7.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs28931594
rs28931594
GJB2
9 0.790 0.280 13 20189434 missense variant C/A;T snv 0.880 1.000 10 2002 2019
dbSNP: rs1057517491
rs1057517491
GJB2
8 0.776 0.240 13 20189448 frameshift variant C/- delins 0.080 1.000 8 2006 2019
dbSNP: rs72561723
rs72561723
GJB2
7 0.790 0.240 13 20189448 missense variant C/T snv 8.0E-06 0.780 1.000 8 2006 2019