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: rs2820436
rs2820436
4 0.882 0.040 1 219467338 intergenic variant A/C;G snv 0.700 1.000 2 2018 2019
dbSNP: rs10218792
rs10218792
1 1.000 0.040 1 245587630 intron variant T/G snv 0.26 0.700 1.000 1 2019 2019
dbSNP: rs1034528
rs1034528
5 0.882 0.120 1 11189075 intron variant G/C snv 0.30 0.010 1.000 1 2019 2019
dbSNP: rs1061622
rs1061622
33 0.633 0.760 1 12192898 missense variant T/G snv 0.22 0.22 0.010 1.000 1 2006 2006
dbSNP: rs1137101
rs1137101
77 0.554 0.760 1 65592830 missense variant A/G snv 0.51 0.50 0.010 1.000 1 2016 2016
dbSNP: rs11807350
rs11807350
1 1.000 0.040 1 161191145 missense variant C/T snv 3.1E-04 4.7E-04 0.010 < 0.001 1 2016 2016
dbSNP: rs1194611372
rs1194611372
9 0.763 0.320 1 152032679 missense variant A/C snv 0.010 1.000 1 2014 2014
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs1417066
rs1417066
1 1.000 0.040 1 219500486 intergenic variant G/A snv 0.43 0.800 1.000 1 2012 2012
dbSNP: rs1676486
rs1676486
7 0.851 0.120 1 102888582 missense variant A/G;T snv 0.80; 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs1800896
rs1800896
113 0.507 0.800 1 206773552 intron variant T/C snv 0.41 0.010 1.000 1 2018 2018
dbSNP: rs20417
rs20417
57 0.576 0.600 1 186681189 non coding transcript exon variant C/G;T snv 0.010 1.000 1 2011 2011
dbSNP: rs2353525
rs2353525
1 1.000 0.040 1 147597199 intron variant T/G snv 0.34 0.010 1.000 1 2013 2013
dbSNP: rs2615977
rs2615977
3 0.925 0.080 1 102986836 intron variant A/C snv 0.27 0.010 < 0.001 1 2013 2013
dbSNP: rs2622873
rs2622873
3 0.882 0.040 1 103000497 intron variant T/C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs2785988
rs2785988
2 0.925 0.040 1 219570796 intergenic variant C/A snv 0.23 0.700 1.000 1 2019 2019
dbSNP: rs3219463
rs3219463
2 0.925 0.120 1 45340760 5 prime UTR variant C/T snv 0.27 0.010 1.000 1 2018 2018
dbSNP: rs41310883
rs41310883
1 1.000 0.040 1 151569700 missense variant C/G;T snv 8.0E-06; 1.2E-02 0.010 1.000 1 2017 2017
dbSNP: rs4140564
rs4140564
1 1.000 0.040 1 186755871 intergenic variant G/A snv 0.93 0.010 1.000 1 2008 2008
dbSNP: rs4233367
rs4233367
2 0.925 0.040 1 161193247 missense variant T/A;C snv 0.67 0.010 < 0.001 1 2016 2016
dbSNP: rs4907986
rs4907986
2 0.925 0.040 1 103084077 intron variant C/T snv 0.49 0.010 1.000 1 2018 2018
dbSNP: rs5030772
rs5030772
7 0.790 0.320 1 172664210 intron variant A/G snv 9.9E-02 0.010 1.000 1 2018 2018
dbSNP: rs61735963
rs61735963
1 1.000 0.040 1 1341803 missense variant C/A;T snv 2.9E-05; 1.5E-02 0.010 1.000 1 2019 2019
dbSNP: rs763110
rs763110
30 0.653 0.560 1 172658358 upstream gene variant C/T snv 0.49 0.010 1.000 1 2018 2018
dbSNP: rs768876280
rs768876280
1 1.000 0.040 1 156881613 missense variant C/T snv 4.2E-06 2.1E-05 0.010 1.000 1 2018 2018