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: 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: 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: rs1566528185
rs1566528185
GJB2
2 1.000 0.120 13 20188976 stop gained -/AAATTCCAGACACTGCAATCATGAACACTGTGAAGACAGTCTTCTC delins 0.700 0
dbSNP: rs111033335
rs111033335
GJB2
2 1.000 0.120 13 20188982 stop gained TCCAGACAC/GAATGTCATGAACACTG delins 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: 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: 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: rs375759781
rs375759781
GJB2
1 13 20189108 stop gained G/A;C snv 1.2E-05 0.700 0
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: 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: 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: 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: rs111033196
rs111033196
GJB2
2 1.000 0.120 13 20189202 missense variant C/A;T snv 2.8E-04; 1.4E-02 0.010 1.000 1 2010 2010
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: rs111033295
rs111033295
GJB2
4 0.925 0.120 13 20189217 missense variant T/A;G snv 6.0E-05 0.700 0
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: rs2274083
rs2274083
GJB2
3 0.925 0.200 13 20189241 missense variant T/C snv 1.5E-02 5.1E-03 0.030 1.000 3 2009 2015
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: rs111033253
rs111033253
GJB2
4 0.925 0.120 13 20189256 frameshift variant CTTGATGAACTTCC/- delins 1.5E-04 0.700 0
dbSNP: rs143343083
rs143343083
GJB2
3 1.000 0.120 13 20189284 missense variant G/A snv 1.2E-05 2.8E-05 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: 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: 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 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