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: rs104894402
rs104894402
GJB2
5 0.882 0.200 13 20189359 missense variant G/A;C snv 0.720 1.000 2 2000 2001
dbSNP: rs28931593
rs28931593
GJB2
9 0.776 0.200 13 20189358 missense variant C/T snv 7.0E-06 0.020 1.000 2 2002 2014
dbSNP: rs1476034902
rs1476034902
GJB2
1 13 20189542 missense variant T/C snv 1.4E-05 0.010 1.000 1 2006 2006
dbSNP: rs1057517519
rs1057517519
GJB2
3 0.925 0.120 13 20189523 missense variant A/G snv 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: 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: rs28931594
rs28931594
GJB2
9 0.790 0.280 13 20189434 missense variant C/A;T snv 0.700 0
dbSNP: rs587783645
rs587783645
GJB2
2 1.000 0.120 13 20189424 missense variant C/A;T snv 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: 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: 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: 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: 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: 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: 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: rs587783646
rs587783646
GJB2
2 1.000 0.120 13 20188949 frameshift variant CA/- delins 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
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: rs756484720
rs756484720
GJB2
2 1.000 0.120 13 20189247 frameshift variant TT/- delins 8.0E-06 1.4E-05 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: rs375759781
rs375759781
GJB2
1 13 20189108 stop gained G/A;C snv 1.2E-05 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