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: rs77543610
rs77543610
28 0.667 0.560 10 121520160 missense variant G/C snv 0.060 1.000 6 1996 2004
dbSNP: rs79184941
rs79184941
41 0.617 0.600 10 121520163 missense variant G/A;C snv 5.6E-05; 4.0E-06 0.030 1.000 3 1998 2004
dbSNP: rs121918504
rs121918504
9 0.807 0.120 10 121517460 missense variant C/A;T snv 2.4E-05 0.020 1.000 2 2002 2004
dbSNP: rs104893966
rs104893966
2 0.925 0.160 6 121447428 missense variant A/C snv 0.010 < 0.001 1 2007 2007
dbSNP: rs104894612
rs104894612
NOG
3 0.882 0.080 17 56594774 missense variant G/A snv 0.010 1.000 1 2001 2001
dbSNP: rs397509432
rs397509432
1 1.000 0.080 22 45542278 missense variant G/T snv 0.010 1.000 1 2014 2014
dbSNP: rs756016701
rs756016701
3 0.882 0.080 8 38419718 missense variant C/A snv 4.0E-06 0.010 1.000 1 2002 2002
dbSNP: rs766812325
rs766812325
3 0.882 0.080 6 45492058 missense variant C/G snv 0.010 1.000 1 2004 2004
dbSNP: rs786205745
rs786205745
6 0.807 0.320 12 2504538 missense variant G/A;C snv 0.010 1.000 1 2013 2013
dbSNP: rs79891110
rs79891110
6 0.807 0.320 12 2504944 stop gained G/A;T snv 0.010 1.000 1 2013 2013
dbSNP: rs981703846
rs981703846
3 0.882 0.080 8 38421872 missense variant C/A;T snv 8.0E-06 0.010 1.000 1 2002 2002
dbSNP: rs137854466
rs137854466
23 0.724 0.320 15 48411280 stop gained G/A;C snv 4.0E-05; 8.0E-06 0.700 0
dbSNP: rs1553370918
rs1553370918
6 0.851 0.360 2 15945602 frameshift variant TG/- delins 0.700 0
dbSNP: rs1562127631
rs1562127631
24 0.742 0.360 6 78961751 frameshift variant C/- del 0.700 0
dbSNP: rs1562150844
rs1562150844
14 0.790 0.280 6 78982908 frameshift variant CTTT/- delins 0.700 0
dbSNP: rs1563595095
rs1563595095
10 0.776 0.320 8 60781285 frameshift variant AA/T delins 0.700 0
dbSNP: rs387906836
rs387906836
5 0.851 0.080 6 35503763 missense variant G/A snv 0.700 0
dbSNP: rs886039792
rs886039792
9 0.807 0.280 5 134874531 splice donor variant G/A snv 0.700 0
dbSNP: rs886039813
rs886039813
8 0.827 0.160 X 13756600 frameshift variant C/- delins 0.700 0
dbSNP: rs1164484724
rs1164484724
13 0.790 0.240 9 137108433 stop gained C/T snv 7.0E-06 0.700 0
dbSNP: rs200750564
rs200750564
6 0.827 0.160 2 176094518 stop gained C/T snv 8.0E-06 7.0E-06 0.700 0
dbSNP: rs775769424
rs775769424
11 0.776 0.280 11 66530934 frameshift variant TG/- del 1.4E-05 0.700 0
dbSNP: rs180177135
rs180177135
27 0.716 0.520 16 23607891 frameshift variant T/- del 2.1E-05 0.700 0
dbSNP: rs398123278
rs398123278
4 0.925 0.120 6 49459376 stop gained G/A snv 1.6E-05 2.8E-05 0.700 0
dbSNP: rs1458741036
rs1458741036
2 0.925 0.080 10 121515287 missense variant G/A snv 3.5E-05 0.010 1.000 1 1997 1997