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: rs1057515572
rs1057515572
8 0.882 0.200 7 5987033 frameshift variant GC/ACT delins 0.700 1.000 1 2007 2007
dbSNP: rs1057519927
rs1057519927
19 0.716 0.240 3 179218295 missense variant A/C;G;T snv 0.700 1.000 14 2006 2018
dbSNP: rs1060500126
rs1060500126
8 0.790 0.160 10 87933223 missense variant A/C;G snv 0.700 1.000 14 2001 2015
dbSNP: rs111033178
rs111033178
6 0.851 0.200 11 77190108 missense variant G/A snv 7.5E-05 5.6E-05 0.700 1.000 13 1995 2011
dbSNP: rs111033284
rs111033284
2 11 77156991 missense variant G/A snv 1.6E-05 7.0E-06 0.700 1.000 13 1995 2011
dbSNP: rs113001196
rs113001196
5 0.882 0.160 15 48432947 stop gained G/A snv 0.700 1.000 29 1986 2016
dbSNP: rs121909231
rs121909231
32 0.667 0.600 10 87961095 stop gained C/A;T snv 0.700 1.000 14 2001 2015
dbSNP: rs121913279
rs121913279
101 0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 0.700 0
dbSNP: rs121918490
rs121918490
6 0.851 0.080 10 121517342 missense variant G/C snv 0.700 1.000 26 1985 2017
dbSNP: rs121918608
rs121918608
3 1.000 0.080 20 34292375 missense variant T/C snv 8.0E-05 9.1E-05 0.700 1.000 5 2006 2016
dbSNP: rs1247427997
rs1247427997
4 1.000 1 165743244 stop gained G/A;T snv 4.0E-06; 4.0E-06 0.700 1.000 4 2010 2014
dbSNP: rs1276519904
rs1276519904
63 0.645 0.520 1 226071445 missense variant A/G snv 0.700 1.000 12 1997 2015
dbSNP: rs1314314373
rs1314314373
4 1.000 14 99176115 stop gained G/A;C snv 4.1E-06 0.700 1.000 19 2003 2016
dbSNP: rs142441643
rs142441643
15 0.732 0.320 5 223509 stop gained C/T snv 2.0E-04 2.4E-04 0.700 1.000 4 2010 2017
dbSNP: rs1553156053
rs1553156053
3 1.000 1 42929652 stop gained G/A snv 0.700 1.000 21 1991 2016
dbSNP: rs1553245943
rs1553245943
2 1.000 0.080 1 160137001 missense variant G/A snv 0.700 1.000 12 1992 2017
dbSNP: rs1553249737
rs1553249737
4 1.000 1 165743263 stop gained G/T snv 0.700 1.000 4 2010 2014
dbSNP: rs1553268563
rs1553268563
2 1 215845823 coding sequence variant C/- delins 0.700 1.000 15 2000 2015
dbSNP: rs1553283037
rs1553283037
2 1.000 1 244860382 missense variant T/C snv 0.700 1.000 13 2010 2017
dbSNP: rs1553479216
rs1553479216
1 2 166228902 stop gained C/T snv 0.700 1.000 21 1995 2016
dbSNP: rs1553549717
rs1553549717
2 1.000 2 166051871 frameshift variant C/- delins 0.700 1.000 19 1997 2014
dbSNP: rs1553631770
rs1553631770
4 1.000 3 41233398 missense variant A/T snv 0.700 1.000 22 1991 2017
dbSNP: rs1553794464
rs1553794464
2 1.000 3 114350821 frameshift variant -/C delins 0.700 1.000 7 2009 2017
dbSNP: rs1553897738
rs1553897738
1 4 41745807 stop lost T/C snv 0.700 1.000 4 2003 2017
dbSNP: rs1554062562
rs1554062562
3 1.000 5 14359442 stop gained C/T snv 0.700 1.000 9 1996 2017