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: rs104894401
rs104894401
GJB2
4 0.851 0.120 13 20189154 missense variant C/T snv 0.800 1.000 18 1998 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 12 2000 2015
dbSNP: rs111033190
rs111033190
GJB2
3 0.925 0.120 13 20189487 missense variant C/A;T snv 3.2E-05; 4.0E-06 0.700 1.000 11 2001 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 10 2002 2016
dbSNP: rs104894402
rs104894402
GJB2
5 0.882 0.200 13 20189359 missense variant G/A;C snv 0.800 1.000 9 1998 2009
dbSNP: rs104894406
rs104894406
GJB2
2 0.925 0.200 13 20188977 missense variant C/A snv 0.800 1.000 7 1998 2009
dbSNP: rs104894407
rs104894407
GJB2
3 0.925 0.120 13 20189450 stop gained C/G;T snv 2.8E-05 0.800 1.000 7 1998 2009
dbSNP: rs104894413
rs104894413
GJB2
9 0.776 0.280 13 20189451 stop gained C/G;T snv 2.4E-05 0.800 1.000 7 1998 2009
dbSNP: rs28931595
rs28931595
GJB2
2 0.925 0.200 13 20189047 missense variant C/A;G;T snv 4.0E-06 0.800 1.000 7 1998 2009
dbSNP: rs777236559
rs777236559
GJB2
1 1.000 0.120 13 20188993 missense variant C/A;T snv 4.0E-06; 4.0E-06 0.700 1.000 7 1998 2009
dbSNP: rs80338950
rs80338950
GJB2
12 0.752 0.280 13 20189031 missense variant C/G;T snv 6.0E-05 0.800 1.000 7 1998 2009
dbSNP: rs786204597
rs786204597
GJB2
2 0.925 0.120 13 20188984 stop gained C/A;T snv 1.6E-05 0.700 1.000 6 2009 2014
dbSNP: rs104894408
rs104894408
GJB2
13 0.742 0.280 13 20189548 missense variant C/A;G snv 5.1E-04 0.700 1.000 5 2004 2015
dbSNP: rs1057517519
rs1057517519
GJB2
3 0.925 0.120 13 20189523 missense variant A/G snv 0.700 1.000 5 2001 2014
dbSNP: rs779018464
rs779018464
GJB2
2 0.925 0.120 13 20189193 missense variant C/G;T snv 4.0E-06 0.700 1.000 5 2003 2013
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 0.700 1.000 4 2007 2014
dbSNP: rs1057517521
rs1057517521
GJB2
2 0.925 0.120 13 20189006 frameshift variant TG/- delins 0.700 1.000 1 2005 2005
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: rs1057517491
rs1057517491
GJB2
8 0.776 0.240 13 20189448 frameshift variant C/- delins 0.700 0
dbSNP: rs1057517508
rs1057517508
GJB2
2 0.925 0.120 13 20189068 frameshift variant A/- del 0.700 0
dbSNP: rs1064797088
rs1064797088
GJB2
2 0.925 0.120 13 20189446 missense variant C/T snv 0.700 0
dbSNP: rs1064797089
rs1064797089
GJB2
1 1.000 0.120 13 20189418 missense variant G/T snv 0.700 0
dbSNP: rs1064797090
rs1064797090
GJB2
1 1.000 0.120 13 20189410 missense variant G/A;C snv 0.700 0
dbSNP: rs1566528901
rs1566528901
GJB2
1 1.000 0.120 13 20189455 inframe deletion CCT/- delins 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