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: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.080 0.875 8 2002 2017
dbSNP: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.050 1.000 5 2011 2017
dbSNP: rs1800872
rs1800872
119 0.495 0.840 1 206773062 5 prime UTR variant T/G snv 0.69 0.030 1.000 3 2008 2016
dbSNP: rs1137101
rs1137101
77 0.554 0.760 1 65592830 missense variant A/G snv 0.51 0.50 0.020 0.500 2 2009 2019
dbSNP: rs1800871
rs1800871
108 0.508 0.800 1 206773289 5 prime UTR variant A/G snv 0.69 0.020 1.000 2 2008 2016
dbSNP: rs1800896
rs1800896
113 0.507 0.800 1 206773552 intron variant T/C snv 0.41 0.020 1.000 2 2014 2016
dbSNP: rs10399805
rs10399805
7 0.851 0.240 1 203186870 upstream gene variant G/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs1047840
rs1047840
19 0.708 0.280 1 241878999 missense variant G/A snv 0.36 0.40 0.010 1.000 1 2009 2009
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: rs10900598
rs10900598
4 0.882 0.120 1 204556440 3 prime UTR variant G/C;T snv 0.38 0.010 1.000 1 2012 2012
dbSNP: rs1137100
rs1137100
39 0.627 0.640 1 65570758 missense variant A/G snv 0.30 0.25 0.010 < 0.001 1 2019 2019
dbSNP: rs11801299
rs11801299
9 0.807 0.200 1 204559956 downstream gene variant G/A snv 0.16 0.010 1.000 1 2012 2012
dbSNP: rs1380576
rs1380576
10 0.763 0.240 1 204519150 intron variant G/C snv 0.57 0.010 1.000 1 2012 2012
dbSNP: rs1635498
rs1635498
9 0.807 0.160 1 241881973 missense variant C/A;G;T snv 0.96 0.010 1.000 1 2009 2009
dbSNP: rs1776148
rs1776148
9 0.807 0.160 1 241879243 missense variant A/G snv 0.66 0.66 0.010 1.000 1 2009 2009
dbSNP: rs1801131
rs1801131
93 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 0.010 1.000 1 2011 2011
dbSNP: rs1801133
rs1801133
174 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.010 1.000 1 2011 2011
dbSNP: rs20417
rs20417
57 0.576 0.600 1 186681189 non coding transcript exon variant C/G;T snv 0.010 < 0.001 1 2015 2015
dbSNP: rs2234922
rs2234922
42 0.630 0.440 1 225838705 missense variant A/G;T snv 0.19; 2.8E-05 0.010 1.000 1 2011 2011
dbSNP: rs2292566
rs2292566
2 1.000 0.080 1 225831952 synonymous variant G/A snv 0.010 1.000 1 2011 2011
dbSNP: rs3754093
rs3754093
11 0.776 0.240 1 241846814 upstream gene variant A/G snv 0.23 0.010 1.000 1 2009 2009
dbSNP: rs5275
rs5275
55 0.583 0.560 1 186673926 3 prime UTR variant A/G;T snv 0.010 < 0.001 1 2015 2015
dbSNP: rs642961
rs642961
14 0.732 0.440 1 209815925 intergenic variant A/G snv 0.84 0.010 1.000 1 2019 2019
dbSNP: rs6691378
rs6691378
6 0.882 0.160 1 203187994 upstream gene variant G/A snv 0.19 0.010 1.000 1 2019 2019
dbSNP: rs689466
rs689466
33 0.637 0.640 1 186681619 upstream gene variant T/C snv 0.17 0.010 < 0.001 1 2015 2015