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: rs200187877
rs200187877
4 0.851 0.040 4 23795829 missense variant C/T snv 8.0E-06 7.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs121913529
rs121913529
144 0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 0.010 < 0.001 1 2007 2007
dbSNP: rs1381537616
rs1381537616
4 0.851 0.040 7 27174132 missense variant C/T snv 0.010 1.000 1 2017 2017
dbSNP: rs1805015
rs1805015
22 0.683 0.520 16 27362859 missense variant T/C snv 0.16 0.22 0.010 1.000 1 2007 2007
dbSNP: rs1801275
rs1801275
58 0.581 0.680 16 27363079 missense variant A/G snv 0.25 0.36 0.010 1.000 1 2007 2007
dbSNP: rs2017309
rs2017309
4 0.851 0.040 22 28735438 intron variant T/A snv 0.23 0.010 1.000 1 2006 2006
dbSNP: rs766265850
rs766265850
4 0.851 0.040 6 30889239 missense variant G/A snv 8.1E-06 7.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs1029044314
rs1029044314
4 0.851 0.040 6 30898095 missense variant G/A snv 0.010 1.000 1 2017 2017
dbSNP: rs1340827343
rs1340827343
4 0.851 0.040 6 31165259 missense variant C/T snv 0.010 1.000 1 2017 2017
dbSNP: rs572480837
rs572480837
4 0.851 0.040 6 31165582 missense variant T/A snv 5.0E-04 8.4E-05 0.010 1.000 1 2017 2017
dbSNP: rs771563543
rs771563543
5 0.851 0.040 10 31510841 missense variant G/A snv 4.0E-06 1.4E-05 0.010 1.000 1 2017 2017
dbSNP: rs121912438
rs121912438
58 0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs74315452
rs74315452
12 0.732 0.160 21 31667356 missense variant T/C snv 0.010 1.000 1 2004 2004
dbSNP: rs1135401891
rs1135401891
7 0.790 0.280 13 32332796 frameshift variant -/CT ins 0.010 1.000 1 2018 2018
dbSNP: rs11571833
rs11571833
43 0.608 0.360 13 32398489 stop gained A/T snv 6.6E-03 6.0E-03 0.010 < 0.001 1 2016 2016
dbSNP: rs1957106
rs1957106
4 0.851 0.040 14 35404564 synonymous variant G/A snv 0.28 0.25 0.010 1.000 1 2014 2014
dbSNP: rs1800734
rs1800734
30 0.653 0.400 3 36993455 5 prime UTR variant G/A snv 0.22 0.010 1.000 1 2014 2014
dbSNP: rs865880036
rs865880036
5 0.827 0.040 15 37098156 missense variant A/C snv 1.3E-04 0.010 1.000 1 2017 2017
dbSNP: rs745542298
rs745542298
6 0.807 0.080 1 3732781 missense variant G/A;T snv 8.6E-06; 4.3E-06 2.1E-05 0.010 1.000 1 2011 2011
dbSNP: rs769809364
rs769809364
7 0.807 0.080 1 3732940 missense variant G/A snv 8.5E-06 1.4E-05 0.010 1.000 1 2011 2011
dbSNP: rs1306185959
rs1306185959
4 0.851 0.040 8 38429805 missense variant T/C snv 7.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs1801320
rs1801320
15 0.742 0.160 15 40695330 5 prime UTR variant G/C snv 0.12 0.010 1.000 1 2016 2016
dbSNP: rs2234248
rs2234248
5 0.827 0.040 6 41163980 upstream gene variant A/G snv 2.2E-03 0.010 1.000 1 2015 2015
dbSNP: rs1982073
rs1982073
32 0.649 0.640 19 41353016 missense variant G/A;C snv 0.010 1.000 1 2019 2019
dbSNP: rs2293157
rs2293157
9 0.763 0.120 17 42300657 intron variant C/A;T snv 0.010 1.000 1 2014 2014