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: rs16851720
rs16851720
5 0.827 0.120 3 141744456 intron variant A/C snv 0.21 0.810 0.500 2 2012 2017
dbSNP: rs4374383
rs4374383
10 0.776 0.200 2 112013193 intron variant A/G snv 0.58 0.810 1.000 2 2012 2017
dbSNP: rs2629751
rs2629751
2 0.925 0.120 12 104028030 intron variant A/G snv 0.36 0.800 1.000 1 2012 2012
dbSNP: rs9380516
rs9380516
2 0.925 0.120 6 35534425 TF binding site variant T/C snv 0.85 0.800 1.000 1 2012 2012
dbSNP: rs1227756
rs1227756
2 0.925 0.080 10 69828748 intron variant G/A;C snv 0.700 1.000 1 2010 2010
dbSNP: rs2645424
rs2645424
5 0.827 0.120 8 11826954 intron variant A/C;G snv 0.56 0.700 1.000 1 2010 2010
dbSNP: rs2710833
rs2710833
2 0.925 0.080 4 168488807 intron variant T/A;C snv 0.700 1.000 1 2010 2010
dbSNP: rs2896019
rs2896019
10 0.790 0.160 22 43937814 intron variant T/G snv 0.20 0.700 1.000 1 2013 2013
dbSNP: rs343064
rs343064
2 0.925 0.080 7 35515178 upstream gene variant C/G;T snv 0.700 1.000 1 2010 2010
dbSNP: rs643608
rs643608
2 0.925 0.080 21 43348682 intergenic variant C/T snv 0.69 0.700 1.000 1 2010 2010
dbSNP: rs6487679
rs6487679
2 0.925 0.080 12 9218736 intergenic variant C/T snv 0.80 0.700 1.000 1 2010 2010
dbSNP: rs6591182
rs6591182
2 0.925 0.080 11 65582285 missense variant T/G snv 0.47 0.45 0.700 1.000 1 2010 2010
dbSNP: rs887304
rs887304
2 0.925 0.080 12 3648382 3 prime UTR variant T/C snv 0.77 0.700 1.000 1 2010 2010
dbSNP: rs1396171148
rs1396171148
5 0.851 0.200 2 222613892 missense variant T/G snv 0.700 0
dbSNP: rs1419129874
rs1419129874
5 0.851 0.200 2 222642894 missense variant A/G snv 7.0E-06 0.700 0
dbSNP: rs1466642025
rs1466642025
5 0.851 0.200 2 222631635 missense variant A/G snv 7.0E-06 0.700 0
dbSNP: rs1553553086
rs1553553086
9 0.827 0.280 2 222623699 missense variant C/T snv 0.700 0
dbSNP: rs1553554543
rs1553554543
5 0.851 0.200 2 222631606 missense variant T/C snv 0.700 0
dbSNP: rs367956522
rs367956522
7 0.851 0.240 13 51949798 splice acceptor variant T/C snv 2.4E-05 7.7E-05 0.700 0
dbSNP: rs757075712
rs757075712
15 0.763 0.200 10 58390856 missense variant C/T snv 1.6E-05 1.4E-05 0.700 0
dbSNP: rs1800562
rs1800562
262 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.100 0.970 33 2000 2018
dbSNP: rs738409
rs738409
88 0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22 0.100 0.862 29 2011 2019
dbSNP: rs12979860
rs12979860
84 0.547 0.520 19 39248147 intron variant C/T snv 0.39 0.100 1.000 14 2011 2018
dbSNP: rs1799945
rs1799945
226 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.100 0.909 11 2001 2017
dbSNP: rs2296651
rs2296651
13 0.732 0.240 14 69778476 missense variant G/A snv 6.3E-03 2.5E-03 0.050 1.000 5 2016 2019