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: rs111033361
rs111033361
GJB2
1 13 20189355 missense variant A/G snv 2.0E-05 7.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs1476034902
rs1476034902
GJB2
1 13 20189542 missense variant T/C snv 1.4E-05 0.010 1.000 1 2006 2006
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: 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: rs375759781
rs375759781
GJB2
1 13 20189108 stop gained G/A;C snv 1.2E-05 0.700 0
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: 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: 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: rs111033297
rs111033297
GJB2
2 1.000 0.120 13 20189413 stop gained G/A snv 2.8E-05 2.8E-05 0.700 0
dbSNP: rs111033335
rs111033335
GJB2
2 1.000 0.120 13 20188982 stop gained TCCAGACAC/GAATGTCATGAACACTG delins 0.700 0
dbSNP: rs1566528185
rs1566528185
GJB2
2 1.000 0.120 13 20188976 stop gained -/AAATTCCAGACACTGCAATCATGAACACTGTGAAGACAGTCTTCTC delins 0.700 0
dbSNP: rs587783645
rs587783645
GJB2
2 1.000 0.120 13 20189424 missense variant C/A;T snv 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: rs756484720
rs756484720
GJB2
2 1.000 0.120 13 20189247 frameshift variant TT/- delins 8.0E-06 1.4E-05 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: 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: 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: rs104894407
rs104894407
GJB2
3 0.925 0.120 13 20189450 stop gained C/G;T snv 2.8E-05 0.710 1.000 1 2001 2001
dbSNP: rs1057517519
rs1057517519
GJB2
3 0.925 0.120 13 20189523 missense variant A/G snv 0.700 0
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 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: rs1801002
rs1801002
GJB2
3 0.925 0.120 13 20189547 missense variant C/A;T snv 9.2E-05; 7.2E-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 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