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: 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: rs80338939
rs80338939
GJB2
14 0.732 0.280 13 20189547 frameshift variant C/-;CC delins 6.4E-03 0.700 1.000 7 1997 2007
dbSNP: rs1057517519
rs1057517519
GJB2
3 0.925 0.120 13 20189523 missense variant A/G snv 0.700 1.000 5 2001 2014
dbSNP: rs1057517521
rs1057517521
GJB2
2 0.925 0.120 13 20189006 frameshift variant TG/- delins 0.700 1.000 1 2005 2005
dbSNP: rs28931593
rs28931593
GJB2
9 0.776 0.200 13 20189358 missense variant C/T snv 7.0E-06 0.700 1.000 1 2005 2005
dbSNP: rs770116143
rs770116143
GJB2
2 0.925 0.120 13 20189017 frameshift variant CT/- delins 4.9E-05 0.700 1.000 1 2004 2004
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: rs727503066
rs727503066
GJB2
8 0.776 0.280 13 20189203 missense variant G/A;C snv 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: rs80338943
rs80338943
GJB2
6 0.851 0.120 13 20189347 frameshift variant G/- delins 4.7E-04; 4.0E-06 2.1E-04 0.700 1.000 3 1999 2003
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: 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: 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: 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: 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: 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: rs371086981
rs371086981
GJB2
2 0.925 0.120 13 20189580 start lost A/C;G snv 4.0E-06 2.8E-05 0.700 1.000 2 2002 2011
dbSNP: rs199883710
rs199883710
GJB2
2 0.925 0.120 13 20189344 stop gained G/A snv 8.0E-06 6.3E-05 0.700 1.000 2 2006 2007