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: rs1800896
rs1800896
113 0.507 0.800 1 206773552 intron variant T/C snv 0.41 0.030 1.000 3 2013 2017
dbSNP: rs1800872
rs1800872
119 0.495 0.840 1 206773062 5 prime UTR variant T/G snv 0.69 0.020 1.000 2 2013 2016
dbSNP: rs3813946
rs3813946
CR2
5 0.827 0.280 1 207454348 5 prime UTR variant T/C snv 0.16 0.020 1.000 2 2013 2016
dbSNP: rs10889677
rs10889677
40 0.627 0.720 1 67259437 3 prime UTR variant C/A snv 0.27 0.010 1.000 1 2012 2012
dbSNP: rs11249433
rs11249433
9 0.827 0.160 1 121538815 intron variant A/C;G snv 0.700 1.000 1 2010 2010
dbSNP: rs1373589952
rs1373589952
1 1.000 0.120 1 206772296 missense variant G/A snv 7.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs1800871
rs1800871
108 0.508 0.800 1 206773289 5 prime UTR variant A/G snv 0.69 0.010 1.000 1 2016 2016
dbSNP: rs2275531
rs2275531
1 1.000 0.120 1 206935771 missense variant C/G;T snv 0.38 0.010 1.000 1 2003 2003
dbSNP: rs291102
rs291102
1 1.000 0.120 1 206933133 missense variant G/A;C snv 0.10 0.010 1.000 1 2003 2003
dbSNP: rs3021097
rs3021097
10 0.752 0.440 1 206773289 5 prime UTR variant A/G snv 0.010 1.000 1 2013 2013
dbSNP: rs3126085
rs3126085
5 0.851 0.280 1 152328341 intron variant G/A snv 0.29 0.010 1.000 1 2017 2017
dbSNP: rs3790844
rs3790844
4 0.882 0.200 1 200038304 intron variant A/C;G snv 0.700 1.000 1 2010 2010
dbSNP: rs5275
rs5275
55 0.583 0.560 1 186673926 3 prime UTR variant A/G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs6790
rs6790
7 0.790 0.320 1 173865494 non coding transcript exon variant G/A snv 8.9E-02 0.010 1.000 1 2017 2017
dbSNP: rs7538876
rs7538876
6 0.807 0.120 1 17395867 intron variant G/A snv 0.37 0.700 1.000 1 2010 2010
dbSNP: rs801114
rs801114
5 0.827 0.120 1 228862088 downstream gene variant T/G snv 0.48 0.700 1.000 1 2010 2010
dbSNP: rs10496040
rs10496040
1 1.000 0.120 2 55080510 5 prime UTR variant C/A snv 9.1E-02 0.010 1.000 1 2019 2019
dbSNP: rs117465650
rs117465650
1 1.000 0.120 2 55050090 missense variant C/T snv 0.12 6.1E-02 0.010 1.000 1 2019 2019
dbSNP: rs12621278
rs12621278
7 0.790 0.280 2 172446825 intron variant A/G snv 4.9E-02 0.700 1.000 1 2010 2010
dbSNP: rs13387042
rs13387042
16 0.732 0.280 2 217041109 intergenic variant A/G snv 0.44 0.700 1.000 1 2010 2010
dbSNP: rs13397985
rs13397985
5 0.827 0.280 2 230226508 intron variant T/C;G snv 0.700 1.000 1 2010 2010
dbSNP: rs1465618
rs1465618
3 0.882 0.160 2 43326810 intron variant T/C snv 0.80 0.700 1.000 1 2010 2010
dbSNP: rs17046583
rs17046583
1 1.000 0.120 2 55001811 intron variant A/G snv 6.8E-02 0.010 1.000 1 2019 2019
dbSNP: rs17483466
rs17483466
5 0.827 0.280 2 111039881 intron variant A/G snv 0.15 0.700 1.000 1 2010 2010
dbSNP: rs232228
rs232228
1 1.000 0.120 2 88859459 intron variant G/A snv 0.15 0.010 1.000 1 2008 2008