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: rs104894396
rs104894396
GJB2
28 0.672 0.400 13 20189511 stop gained C/T snv 5.8E-04 1.1E-04 0.700 0
dbSNP: rs104894398
rs104894398
GJB2
10 0.776 0.280 13 20189443 stop gained C/A;T snv 1.3E-04; 4.0E-06 0.700 0
dbSNP: rs104894413
rs104894413
GJB2
9 0.776 0.280 13 20189451 stop gained C/G;T snv 2.4E-05 0.700 0
dbSNP: rs111033293
rs111033293
GJB2
10 0.763 0.280 13 20189581 start lost T/A;C snv 3.6E-05 4.2E-05 0.700 0
dbSNP: rs111033294
rs111033294
GJB2
10 0.763 0.280 13 20188965 missense variant T/C snv 9.6E-05 1.8E-04 0.700 0
dbSNP: rs111033299
rs111033299
GJB2
10 0.763 0.280 13 20189299 missense variant C/T snv 4.8E-05 7.7E-05 0.700 0
dbSNP: rs1566528711
rs1566528711
GJB2
6 0.851 0.240 13 20189338 missense variant T/C snv 0.700 0
dbSNP: rs371024165
rs371024165
GJB2
9 0.763 0.400 13 20189488 missense variant G/A;T snv 3.2E-05; 8.0E-06 0.700 0
dbSNP: rs72474224
rs72474224
GJB2
18 0.708 0.440 13 20189473 missense variant C/A;T snv 7.7E-03 0.700 0
dbSNP: rs727503066
rs727503066
GJB2
8 0.776 0.280 13 20189203 missense variant G/A;C snv 0.700 0
dbSNP: rs76434661
rs76434661
GJB2
11 0.763 0.280 13 20189166 missense variant C/T snv 2.9E-04 4.6E-04 0.700 0
dbSNP: rs774518779
rs774518779
GJB2
9 0.776 0.280 13 20189076 missense variant C/T snv 8.0E-06 0.700 0
dbSNP: rs80338940
rs80338940
GJB2
11 0.763 0.280 13 20192782 splice donor variant C/T snv 2.3E-04 0.700 0
dbSNP: rs80338944
rs80338944
GJB2
9 0.763 0.280 13 20189351 stop gained C/T snv 1.4E-04 4.2E-05 0.700 0
dbSNP: rs80338945
rs80338945
GJB2
32 0.695 0.440 13 20189313 missense variant A/G snv 6.4E-04 6.4E-04 0.700 0
dbSNP: rs80338948
rs80338948
GJB2
12 0.763 0.280 13 20189155 missense variant G/A snv 1.2E-04 2.0E-04 0.700 0
dbSNP: rs80338950
rs80338950
GJB2
12 0.752 0.280 13 20189031 missense variant C/G;T snv 6.0E-05 0.700 0
dbSNP: rs28929485
rs28929485
GJB2
7 0.807 0.320 13 20189532 missense variant G/A;C snv 0.810 1.000 1 2004 2004
dbSNP: rs80338942
rs80338942
GJB2
10 0.776 0.280 13 20189415 frameshift variant A/- del 8.9E-04 5.8E-04 0.700 1.000 1 2007 2007
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: 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: 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
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