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: 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: rs2297440
rs2297440
10 0.763 0.080 20 63680946 intron variant T/C snv 0.81 0.730 1.000 5 2010 2018
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: rs2853669
rs2853669
35 0.649 0.320 5 1295234 upstream gene variant A/G snv 0.25 0.040 1.000 4 2015 2017
dbSNP: rs10069690
rs10069690
53 0.595 0.560 5 1279675 intron variant C/T snv 0.36 0.710 1.000 3 2015 2018
dbSNP: rs1057519904
rs1057519904
17 0.742 0.080 6 27872233 missense variant T/A snv 0.030 1.000 3 2012 2018
dbSNP: rs1695
rs1695
188 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.030 1.000 3 2010 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: rs55705857
rs55705857
16 0.732 0.080 8 129633446 intron variant A/G snv 3.9E-02 0.710 1.000 3 2013 2018
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: rs861539
rs861539
104 0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30 0.030 1.000 3 2012 2016
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.020 1.000 2 2006 2008
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: rs149840192
rs149840192
7 0.807 0.080 7 55154129 missense variant C/A;T snv 0.710 1.000 2 2016 2018
dbSNP: rs16906252
rs16906252
19 0.732 0.200 10 129467281 synonymous variant C/T snv 5.5E-02 5.1E-02 0.020 1.000 2 2013 2015
dbSNP: rs1801275
rs1801275
58 0.581 0.680 16 27363079 missense variant A/G snv 0.25 0.36 0.020 1.000 2 2007 2013
dbSNP: rs1801320
rs1801320
15 0.742 0.160 15 40695330 5 prime UTR variant G/C snv 0.12 0.020 1.000 2 2016 2018
dbSNP: rs2010963
rs2010963
82 0.542 0.840 6 43770613 5 prime UTR variant C/G snv 0.68 0.020 1.000 2 2015 2018