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: rs121913500
rs121913500
96 0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 0.800 0.977 43 2010 2020
dbSNP: rs113488022
rs113488022
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.800 1.000 15 2011 2019
dbSNP: rs121913377
rs121913377
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.100 1.000 14 2011 2019
dbSNP: rs1057519903
rs1057519903
28 0.683 0.080 1 226064434 missense variant A/T snv 0.080 1.000 8 2013 2018
dbSNP: rs1057519902
rs1057519902
16 0.742 0.160 1 226064451 missense variant G/C snv 0.740 1.000 5 2013 2017
dbSNP: rs28934576
rs28934576
78 0.554 0.600 17 7673802 missense variant C/A;G;T snv 4.0E-06; 1.6E-05 0.740 1.000 5 2009 2018
dbSNP: rs1553260624
rs1553260624
14 0.763 0.080 1 226064454 missense variant G/A snv 0.040 1.000 4 2013 2017
dbSNP: rs1057519904
rs1057519904
17 0.742 0.080 6 27872233 missense variant T/A snv 0.030 1.000 3 2012 2018
dbSNP: rs498872
rs498872
10 0.776 0.240 11 118606652 5 prime UTR variant A/G;T snv 0.030 1.000 3 2011 2020
dbSNP: rs6010620
rs6010620
21 0.701 0.360 20 63678486 intron variant A/C;G snv 0.030 1.000 3 2011 2020
dbSNP: rs75061358
rs75061358
4 0.882 0.040 7 54848587 intergenic variant T/C;G snv 0.700 1.000 3 2015 2018
dbSNP: rs1045642
rs1045642
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.020 < 0.001 2 2005 2020
dbSNP: rs121912656
rs121912656
28 0.662 0.560 17 7674229 missense variant C/A;G;T snv 4.0E-06; 4.0E-06 0.710 1.000 2 2012 2016
dbSNP: rs121913343
rs121913343
44 0.611 0.520 17 7673803 missense variant G/A;C;T snv 1.2E-05 0.710 1.000 2 2016 2018
dbSNP: rs121913499
rs121913499
51 0.605 0.520 2 208248389 missense variant G/A;C;T snv 0.710 1.000 2 2011 2016
dbSNP: rs1273593548
rs1273593548
19 0.716 0.160 7 106867593 missense variant T/G snv 8.4E-06 0.020 0.500 2 2007 2017
dbSNP: rs149840192
rs149840192
7 0.807 0.080 7 55154129 missense variant C/A;T snv 0.710 1.000 2 2016 2018
dbSNP: rs760043106
rs760043106
32 0.645 0.440 17 7674947 missense variant A/C;G;T snv 0.710 1.000 2 2009 2016
dbSNP: rs1029044314
rs1029044314
4 0.851 0.040 6 30898095 missense variant G/A snv 0.010 1.000 1 2017 2017
dbSNP: rs1042522
rs1042522
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.010 1.000 1 2013 2013
dbSNP: rs104886003
rs104886003
71 0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs104893877
rs104893877
59 0.614 0.360 4 89828149 missense variant C/T snv 0.010 1.000 1 2016 2016
dbSNP: rs104894229
rs104894229
73 0.564 0.600 11 534289 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs104894230
rs104894230
73 0.564 0.600 11 534288 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519757
rs1057519757
5 0.882 0.120 5 68293310 missense variant G/A;C snv 0.700 1.000 1 2016 2016