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 0.100 1.000 11 2006 2019
dbSNP: rs72561723
rs72561723
GJB2
7 0.790 0.240 13 20189448 missense variant C/T snv 8.0E-06 0.100 1.000 11 2006 2019
dbSNP: rs28931594
rs28931594
GJB2
9 0.790 0.280 13 20189434 missense variant C/A;T snv 0.080 1.000 8 2003 2019
dbSNP: rs104894408
rs104894408
GJB2
13 0.742 0.280 13 20189548 missense variant C/A;G snv 5.1E-04 0.050 1.000 5 2004 2018
dbSNP: rs1165937383
rs1165937383
GJB2
3 0.925 0.240 13 20189540 frameshift variant -/T delins 2.1E-05 0.030 1.000 3 2004 2009
dbSNP: rs104894410
rs104894410
GJB2
6 0.807 0.320 13 20189407 missense variant C/G;T snv 0.010 1.000 1 2006 2006
dbSNP: rs104894415
rs104894415
GJB6
11 0.742 0.240 13 20223450 missense variant C/G;T snv 4.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs104894416
rs104894416
GJB6
3 0.882 0.160 13 20223371 missense variant A/T snv 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs200830749
rs200830749
MPG
2 0.925 0.240 16 79470 missense variant G/C snv 4.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs28929485
rs28929485
GJB2
7 0.807 0.320 13 20189532 missense variant G/A;C snv 0.010 1.000 1 2004 2004
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: rs773946331
rs773946331
TLR2
2 0.925 0.240 4 153702941 missense variant G/A snv 3.6E-05 3.5E-05 0.010 1.000 1 2017 2017