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: rs774518779
rs774518779
GJB2
9 0.776 0.280 13 20189076 missense variant C/T snv 8.0E-06 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: rs767178508
rs767178508
GJB2
5 0.851 0.120 13 20189143 missense variant C/T snv 1.2E-05 4.2E-05 0.700 1.000 3 2004 2010
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: rs397516873
rs397516873
GJB2
2 0.925 0.120 13 20189514 frameshift variant ATCTTTCCAATGCTGGTGGAGTGTTTGTTCACACCCCC/- del 2.0E-05 1.4E-05 0.700 1.000 2 2005 2011
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: 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: 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: rs104894397
rs104894397
GJB2
3 0.882 0.120 13 20189353 missense variant A/G snv 4.0E-05 1.1E-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: rs587783647
rs587783647
GJB2
3 0.925 0.120 13 20188932 frameshift variant TCTA/- delins 4.8E-05 2.1E-05 0.700 1.000 3 2000 2014
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: 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: 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: 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: 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: 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: rs80338949
rs80338949
GJB2
1 1.000 0.120 13 20189095 missense variant T/C;G snv 1.4E-04 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 1.000 10 2001 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: 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: 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: 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: rs72474224
rs72474224
GJB2
18 0.708 0.440 13 20189473 missense variant C/A;T snv 7.7E-03 0.700 0