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: 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: rs104894408
rs104894408
GJB2
13 0.742 0.280 13 20189548 missense variant C/A;G snv 5.1E-04 0.700 0
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: 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: rs111033253
rs111033253
GJB2
4 0.925 0.120 13 20189256 frameshift variant CTTGATGAACTTCC/- delins 1.5E-04 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: rs111033295
rs111033295
GJB2
4 0.925 0.120 13 20189217 missense variant T/A;G snv 6.0E-05 0.700 0
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: 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: rs111033335
rs111033335
GJB2
2 1.000 0.120 13 20188982 stop gained TCCAGACAC/GAATGTCATGAACACTG delins 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: rs1566528185
rs1566528185
GJB2
2 1.000 0.120 13 20188976 stop gained -/AAATTCCAGACACTGCAATCATGAACACTGTGAAGACAGTCTTCTC delins 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: rs28931594
rs28931594
GJB2
9 0.790 0.280 13 20189434 missense variant C/A;T snv 0.700 0
dbSNP: rs375759781
rs375759781
GJB2
1 13 20189108 stop gained G/A;C snv 1.2E-05 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: rs587783647
rs587783647
GJB2
3 0.925 0.120 13 20188932 frameshift variant TCTA/- delins 4.8E-05 2.1E-05 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: 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: rs786204734
rs786204734
GJB2
2 1.000 0.120 13 20192783 splice region variant C/A;T snv 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: rs80338940
rs80338940
GJB2
11 0.763 0.280 13 20192782 splice donor variant C/T snv 2.3E-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