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: rs998045226
rs998045226
GJB2
2 1.000 0.120 13 20189032 missense variant G/A snv 1.2E-05 2.8E-05 0.700 0
dbSNP: rs80338950
rs80338950
GJB2
12 0.752 0.280 13 20189031 missense variant C/G;T snv 6.0E-05 0.730 0.667 3 2010 2017
dbSNP: rs80338948
rs80338948
GJB2
12 0.763 0.280 13 20189155 missense variant G/A snv 1.2E-04 2.0E-04 0.720 1.000 2 2005 2019
dbSNP: rs80338947
rs80338947
GJB2
3 1.000 0.120 13 20189222 inframe deletion CTC/- delins 7.2E-05 9.1E-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 0.720 1.000 2 2005 2007
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 0
dbSNP: rs80338942
rs80338942
GJB2
10 0.776 0.280 13 20189415 frameshift variant A/- del 8.9E-04 5.8E-04 0.700 0
dbSNP: rs80338941
rs80338941
GJB2
2 1.000 0.120 13 20189526 missense variant C/A;G snv 2.8E-05; 1.2E-05 0.710 1.000 1 2005 2005
dbSNP: rs80338940
rs80338940
GJB2
11 0.763 0.280 13 20192782 splice donor variant C/T snv 2.3E-04 0.700 0
dbSNP: rs80338939
rs80338939
GJB2
14 0.732 0.280 13 20189547 frameshift variant C/-;CC delins 6.4E-03 0.700 0
dbSNP: rs786204734
rs786204734
GJB2
2 1.000 0.120 13 20192783 splice region variant C/A;T snv 0.700 0
dbSNP: rs781534323
rs781534323
GJB2
2 1.000 0.120 13 20189336 missense variant G/C snv 8.0E-06 7.0E-06 0.010 1.000 1 2002 2002
dbSNP: rs774518779
rs774518779
GJB2
9 0.776 0.280 13 20189076 missense variant C/T snv 8.0E-06 0.010 1.000 1 2014 2014
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: rs756484720
rs756484720
GJB2
2 1.000 0.120 13 20189247 frameshift variant TT/- delins 8.0E-06 1.4E-05 0.700 0
dbSNP: rs755058488
rs755058488
GJB2
1 13 20189186 synonymous variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2001 2001
dbSNP: rs750795475
rs750795475
GJB2
1 13 20189144 synonymous variant G/A snv 4.0E-06 7.0E-06 0.010 1.000 1 2002 2002
dbSNP: rs72474224
rs72474224
GJB2
18 0.708 0.440 13 20189473 missense variant C/A;T snv 7.7E-03 0.800 0.900 10 2004 2017
dbSNP: rs587783647
rs587783647
GJB2
3 0.925 0.120 13 20188932 frameshift variant TCTA/- delins 4.8E-05 2.1E-05 0.700 0
dbSNP: rs587783646
rs587783646
GJB2
2 1.000 0.120 13 20188949 frameshift variant CA/- delins 4.0E-06 0.700 0
dbSNP: rs587783645
rs587783645
GJB2
2 1.000 0.120 13 20189424 missense variant C/A;T snv 0.700 0
dbSNP: rs397516874
rs397516874
GJB2
2 1.000 0.120 13 20189212 stop gained G/A snv 8.4E-05 0.710 1.000 1 2017 2017
dbSNP: rs375759781
rs375759781
GJB2
1 13 20189108 stop gained G/A;C snv 1.2E-05 0.700 0
dbSNP: rs35887622
rs35887622
GJB2
8 0.790 0.200 13 20189481 missense variant A/C;G snv 8.7E-03 0.740 0.833 6 2001 2012
dbSNP: rs28931594
rs28931594
GJB2
9 0.790 0.280 13 20189434 missense variant C/A;T snv 0.700 0