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: rs104894409
rs104894409
GJB2
6 0.827 0.120 13 20189332 missense variant C/A;G;T snv 1.6E-05; 3.6E-05; 4.0E-06 0.800 1.000 35 1998 2016
dbSNP: rs72474224
rs72474224
GJB2
18 0.708 0.440 13 20189473 missense variant C/A;T snv 7.7E-03 0.800 1.000 28 1998 2016
dbSNP: rs80338950
rs80338950
GJB2
12 0.752 0.280 13 20189031 missense variant C/G;T snv 6.0E-05 0.800 1.000 27 1997 2015
dbSNP: rs111033190
rs111033190
GJB2
3 0.925 0.120 13 20189487 missense variant C/A;T snv 3.2E-05; 4.0E-06 0.800 1.000 23 1998 2015
dbSNP: rs80338948
rs80338948
GJB2
12 0.763 0.280 13 20189155 missense variant G/A snv 1.2E-04 2.0E-04 0.800 1.000 20 1998 2015
dbSNP: rs111033299
rs111033299
GJB2
10 0.763 0.280 13 20189299 missense variant C/T snv 4.8E-05 7.7E-05 0.800 1.000 17 1998 2009
dbSNP: rs80338945
rs80338945
GJB2
32 0.695 0.440 13 20189313 missense variant A/G snv 6.4E-04 6.4E-04 0.800 1.000 17 1998 2014
dbSNP: rs104894397
rs104894397
GJB2
3 0.882 0.120 13 20189353 missense variant A/G snv 4.0E-05 1.1E-04 0.800 1.000 14 1997 2012
dbSNP: rs1291519904
rs1291519904
GJB2
2 0.925 0.120 13 20189325 missense variant G/A;C snv 4.0E-06; 4.0E-06 0.800 1.000 12 1998 2016
dbSNP: rs397516871
rs397516871
GJB2
1 1.000 0.120 13 20189303 missense variant C/T snv 1.6E-05 7.0E-06 0.800 1.000 12 1998 2012
dbSNP: rs779018464
rs779018464
GJB2
2 0.925 0.120 13 20189193 missense variant C/G;T snv 4.0E-06 0.800 1.000 12 1998 2013
dbSNP: rs80338946
rs80338946
GJB2
1 1.000 0.120 13 20189243 missense variant A/C snv 1.2E-05 0.800 1.000 12 1998 2013
dbSNP: rs397516875
rs397516875
GJB2
2 0.925 0.120 13 20189197 stop gained C/A;T snv 6.4E-05 0.800 1.000 8 1998 2016
dbSNP: rs80338939
rs80338939
GJB2
14 0.732 0.280 13 20189547 frameshift variant C/-;CC delins 6.4E-03 0.700 1.000 35 1997 2014
dbSNP: rs35887622
rs35887622
GJB2
8 0.790 0.200 13 20189481 missense variant A/C;G snv 8.7E-03 0.700 1.000 27 1997 2016
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 1.000 24 2000 2015
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 1.000 23 1997 2012
dbSNP: rs143343083
rs143343083
GJB2
3 1.000 0.120 13 20189284 missense variant G/A snv 1.2E-05 2.8E-05 0.700 1.000 17 1999 2016
dbSNP: rs104894396
rs104894396
GJB2
28 0.672 0.400 13 20189511 stop gained C/T snv 5.8E-04 1.1E-04 0.700 1.000 16 1997 2015
dbSNP: rs1801002
rs1801002
GJB2
3 0.925 0.120 13 20189547 missense variant C/A;T snv 9.2E-05; 7.2E-05 0.700 1.000 16 2000 2015
dbSNP: rs111033295
rs111033295
GJB2
4 0.925 0.120 13 20189217 missense variant T/A;G snv 6.0E-05 0.700 1.000 15 1999 2016
dbSNP: rs76434661
rs76434661
GJB2
11 0.763 0.280 13 20189166 missense variant C/T snv 2.9E-04 4.6E-04 0.700 1.000 15 2001 2014
dbSNP: rs104894401
rs104894401
GJB2
4 0.851 0.120 13 20189154 missense variant C/T snv 0.700 1.000 14 2001 2015
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 1.000 14 1998 2015
dbSNP: rs80338940
rs80338940
GJB2
11 0.763 0.280 13 20192782 splice donor variant C/T snv 2.3E-04 0.700 1.000 13 1999 2015