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: rs121918457
rs121918457
24 0.701 0.280 12 112488466 missense variant C/T snv 4.0E-06 7.0E-06 0.710 1.000 39 2002 2017
dbSNP: rs397516074
rs397516074
5 0.827 0.120 11 47348424 missense variant C/T snv 1.7E-05 4.2E-05 0.720 1.000 33 1998 2017
dbSNP: rs104894724
rs104894724
8 0.790 0.120 19 55154146 missense variant G/A;C snv 4.0E-06 0.740 1.000 30 1997 2016
dbSNP: rs121913637
rs121913637
3 0.882 0.080 14 23425971 missense variant G/A snv 7.0E-06 0.720 1.000 30 1994 2018
dbSNP: rs104894503
rs104894503
9 0.776 0.160 15 63060899 missense variant G/A snv 1.6E-05 2.8E-05 0.800 1.000 28 1994 2019
dbSNP: rs121913624
rs121913624
4 0.851 0.080 14 23429278 missense variant C/A;G;T snv 0.740 1.000 26 1990 2018
dbSNP: rs121913625
rs121913625
4 0.851 0.080 14 23429005 missense variant G/A;C;T snv 0.720 1.000 25 1992 2018
dbSNP: rs121913632
rs121913632
3 0.882 0.080 14 23425760 missense variant C/A;G;T snv 0.700 1.000 22 1993 2017
dbSNP: rs200411226
rs200411226
4 0.851 0.080 11 47342718 missense variant C/T snv 2.4E-05 4.2E-05 0.700 1.000 22 1998 2017
dbSNP: rs397516354
rs397516354
8 0.790 0.120 19 55154094 missense variant C/A;G;T snv 4.0E-05 0.700 1.000 22 1997 2017
dbSNP: rs397516456
rs397516456
5 0.827 0.080 1 201365298 missense variant G/A snv 4.0E-06 1.4E-05 0.710 1.000 22 1996 2016
dbSNP: rs121913630
rs121913630
7 0.851 0.080 14 23425814 missense variant G/A;C snv 1.2E-05 0.740 1.000 21 1992 2020
dbSNP: rs397515912
rs397515912
3 0.925 0.080 11 47342611 missense variant C/A;G;T snv 1.2E-05; 3.2E-05 0.700 1.000 20 2006 2017
dbSNP: rs121964856
rs121964856
8 0.807 0.120 1 201365297 missense variant C/A;T snv 0.730 1.000 18 1994 2020
dbSNP: rs397515905
rs397515905
5 0.851 0.080 11 47342719 missense variant G/A;C;T snv 4.0E-06; 8.0E-06 0.700 1.000 18 1998 2017
dbSNP: rs397516201
rs397516201
3 0.882 0.080 14 23418249 missense variant G/A snv 4.0E-06 1.4E-05 0.700 1.000 18 2003 2017
dbSNP: rs104894369
rs104894369
10 0.807 0.080 12 110914287 missense variant C/A;T snv 0.740 1.000 17 1998 2019
dbSNP: rs121909374
rs121909374
7 0.790 0.120 11 47342578 stop gained C/A;G snv 1.3E-05 0.700 1.000 16 1997 2017
dbSNP: rs121913626
rs121913626
3 0.882 0.080 14 23427723 missense variant C/A;G;T snv 4.0E-06 0.700 1.000 16 1992 2017
dbSNP: rs121913627
rs121913627
8 0.851 0.080 14 23427657 missense variant C/A;G;T snv 4.0E-06 0.730 1.000 16 1992 2010
dbSNP: rs2754158
rs2754158
4 0.882 0.080 14 23424876 missense variant G/A;C;T snv 1.2E-05 0.700 1.000 16 2004 2017
dbSNP: rs36211715
rs36211715
5 0.851 0.080 14 23424839 missense variant C/A;G;T snv 4.0E-06 0.720 1.000 16 1995 2017
dbSNP: rs397516127
rs397516127
9 0.763 0.160 14 23426834 missense variant G/A;C snv 0.700 1.000 16 1999 2016
dbSNP: rs3218713
rs3218713
10 0.763 0.160 14 23431468 missense variant C/A;T snv 0.700 1.000 15 1991 2017
dbSNP: rs104894729
rs104894729
5 0.827 0.080 19 55151892 missense variant C/A;G;T snv 0.710 1.000 13 2003 2013