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: rs104894814
rs104894814
GJB1
2 0.925 0.080 X 71224365 stop gained C/G;T snv 0.810 1.000 21 1994 2018
dbSNP: rs1060501002
rs1060501002
GJB1
2 1.000 0.080 X 71223772 missense variant G/A snv 0.810 1.000 1 2001 2001
dbSNP: rs139643362
rs139643362
GJB1
1 1.000 0.080 X 71224197 missense variant C/T snv 5.8E-06 9.6E-06 0.800 1.000 29 1994 2005
dbSNP: rs863224973
rs863224973
GJB1
1 1.000 0.080 X 71224026 missense variant C/A;T snv 0.800 1.000 27 1994 2009
dbSNP: rs863224974
rs863224974
GJB1
1 1.000 0.080 X 71223751 missense variant G/A snv 0.800 1.000 26 1994 2007
dbSNP: rs863224972
rs863224972
GJB1
1 1.000 0.080 X 71223931 missense variant G/A snv 0.800 1.000 25 1994 2013
dbSNP: rs104894810
rs104894810
GJB1
2 0.925 0.080 X 71224131 missense variant C/T snv 5.9E-06 0.800 1.000 20 1994 2005
dbSNP: rs104894811
rs104894811
GJB1
1 1.000 0.080 X 71224221 missense variant C/T snv 5.7E-06 0.800 1.000 20 1994 2005
dbSNP: rs104894812
rs104894812
GJB1
1 1.000 0.080 X 71224122 missense variant G/A snv 5.8E-06 0.800 1.000 20 1994 2005
dbSNP: rs104894813
rs104894813
GJB1
1 1.000 0.080 X 71224104 missense variant T/C snv 0.800 1.000 20 1994 2005
dbSNP: rs104894817
rs104894817
GJB1
1 1.000 0.080 X 71223796 missense variant T/A snv 0.800 1.000 20 1994 2005
dbSNP: rs104894818
rs104894818
GJB1
1 1.000 0.080 X 71224174 missense variant T/G snv 0.800 1.000 20 1994 2005
dbSNP: rs104894819
rs104894819
GJB1
1 1.000 0.080 X 71223901 missense variant A/G snv 0.800 1.000 20 1994 2005
dbSNP: rs104894820
rs104894820
GJB1
1 1.000 0.080 X 71223744 missense variant G/A;T snv 6.0E-05 0.800 1.000 20 1994 2005
dbSNP: rs104894821
rs104894821
GJB1
1 1.000 0.080 X 71223990 missense variant G/A snv 0.800 1.000 20 1994 2005
dbSNP: rs104894822
rs104894822
GJB1
2 0.925 0.080 X 71224321 missense variant A/G snv 0.800 1.000 20 1994 2005
dbSNP: rs104894823
rs104894823
GJB1
1 1.000 0.080 X 71223961 missense variant C/G snv 0.800 1.000 20 1994 2005
dbSNP: rs104894824
rs104894824
GJB1
4 0.882 0.160 X 71223871 missense variant C/T snv 0.800 1.000 20 1994 2005
dbSNP: rs104894826
rs104894826
GJB1
3 0.882 0.080 X 71224114 missense variant T/C snv 0.800 1.000 20 1994 2005
dbSNP: rs116840815
rs116840815
GJB1
1 1.000 0.080 X 71223750 missense variant C/T snv 0.800 1.000 20 1994 2005
dbSNP: rs116840817
rs116840817
GJB1
3 0.925 0.080 X 71223852 missense variant T/C snv 0.800 1.000 20 1994 2005
dbSNP: rs116840818
rs116840818
GJB1
1 1.000 0.080 X 71223894 missense variant G/A snv 0.800 1.000 20 1994 2005
dbSNP: rs116840819
rs116840819
GJB1
4 0.882 0.240 X 71223930 missense variant C/A;T snv 0.800 1.000 20 1994 2005
dbSNP: rs116840821
rs116840821
GJB1
2 0.925 0.160 X 71224263 stop gained G/A;T snv 0.800 1.000 20 1994 2005
dbSNP: rs587777876
rs587777876
GJB1
1 1.000 0.080 X 71223784 missense variant C/G;T snv 0.800 1.000 20 1994 2005