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: rs12605436
rs12605436
2 0.925 0.080 18 35906684 upstream gene variant C/T snv 9.1E-02 0.010 1.000 1 2019 2019
dbSNP: rs12692386
rs12692386
5 0.827 0.160 2 9555777 5 prime UTR variant A/G snv 0.72 0.010 1.000 1 2016 2016
dbSNP: rs13137
rs13137
5 0.827 0.160 17 59841670 3 prime UTR variant A/T snv 0.18 0.010 1.000 1 2019 2019
dbSNP: rs1360485
rs1360485
16 0.742 0.320 13 30457747 3 prime UTR variant C/T snv 0.58 0.010 < 0.001 1 2019 2019
dbSNP: rs1419560997
rs1419560997
2 0.925 0.080 11 117993410 splice region variant G/A snv 8.0E-06 7.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs1429638
rs1429638
2 0.925 0.080 4 73872213 downstream gene variant C/A;G snv 0.17 0.010 1.000 1 2019 2019
dbSNP: rs1475145065
rs1475145065
3 0.882 0.080 14 24574706 missense variant C/G;T snv 4.0E-06; 8.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs1524668
rs1524668
4 0.851 0.160 2 9557243 upstream gene variant A/C snv 0.64 0.010 1.000 1 2016 2016
dbSNP: rs17036188
rs17036188
3 0.882 0.120 3 12299426 intron variant T/C snv 4.0E-02 0.010 1.000 1 2018 2018
dbSNP: rs17281995
rs17281995
11 0.763 0.360 3 122120794 3 prime UTR variant G/A;C snv 0.010 1.000 1 2015 2015
dbSNP: rs17446614
rs17446614
5 0.851 0.240 13 40565740 intron variant G/A snv 0.16 0.010 1.000 1 2019 2019
dbSNP: rs17602729
rs17602729
2 0.925 0.080 1 114693436 stop gained G/A;T snv 8.6E-02 0.010 1.000 1 2015 2015
dbSNP: rs1764390
rs1764390
3 0.882 0.160 1 34794360 missense variant A/C;G;T snv 0.61 0.69 0.010 1.000 1 2017 2017
dbSNP: rs1799768
rs1799768
6 0.807 0.360 7 101126425 upstream gene variant -/A;C ins 0.010 1.000 1 2015 2015
dbSNP: rs1799946
rs1799946
13 0.732 0.360 8 6877909 5 prime UTR variant C/T snv 0.36 0.41 0.010 1.000 1 2014 2014
dbSNP: rs1800562
rs1800562
262 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.010 1.000 1 2001 2001
dbSNP: rs1800624
rs1800624
33 0.658 0.480 6 32184610 upstream gene variant A/G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs1800795
rs1800795
140 0.494 0.840 7 22727026 intron variant C/G snv 0.71 0.010 1.000 1 2015 2015
dbSNP: rs1800796
rs1800796
74 0.555 0.760 7 22726627 non coding transcript exon variant G/C snv 9.9E-02 0.010 1.000 1 2015 2015
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: rs1800872
rs1800872
119 0.495 0.840 1 206773062 5 prime UTR variant T/G snv 0.69 0.010 1.000 1 2016 2016
dbSNP: rs1801282
rs1801282
131 0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02 0.010 1.000 1 2018 2018
dbSNP: rs187084
rs187084
36 0.641 0.480 3 52227015 intron variant A/G snv 0.38 0.010 1.000 1 2011 2011
dbSNP: rs1883832
rs1883832
52 0.581 0.680 20 46118343 5 prime UTR variant T/C snv 0.75 0.80 0.010 1.000 1 2018 2018
dbSNP: rs1891320
rs1891320
2 0.925 0.080 1 19970618 upstream gene variant C/T snv 0.20 0.010 1.000 1 2010 2010