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: rs3087243
rs3087243
44 0.623 0.720 2 203874196 downstream gene variant G/A snv 0.37 0.030 1.000 3 2009 2014
dbSNP: rs10004195
rs10004195
8 0.790 0.320 4 38783103 upstream gene variant T/A snv 0.29 0.010 1.000 1 2015 2015
dbSNP: rs10181656
rs10181656
9 0.763 0.360 2 191105153 intron variant G/C snv 0.79 0.010 1.000 1 2014 2014
dbSNP: rs1053005
rs1053005
10 0.763 0.360 17 42313892 3 prime UTR variant T/C snv 0.25 0.010 1.000 1 2013 2013
dbSNP: rs1179251
rs1179251
14 0.763 0.320 12 68251271 intron variant C/G snv 0.18 0.010 1.000 1 2017 2017
dbSNP: rs12492609
rs12492609
3 0.882 0.040 3 119435715 intron variant C/T snv 0.14 0.010 1.000 1 2019 2019
dbSNP: rs1267634673
rs1267634673
2 0.925 0.040 3 24127628 missense variant C/T snv 0.010 1.000 1 2013 2013
dbSNP: rs13277113
rs13277113
BLK
18 0.695 0.520 8 11491677 intron variant G/A snv 0.25 0.010 1.000 1 2019 2019
dbSNP: rs1544410
rs1544410
VDR
78 0.542 0.760 12 47846052 intron variant C/A;G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs17445836
rs17445836
5 0.851 0.320 16 85984057 intron variant G/A snv 0.15 0.010 1.000 1 2015 2015
dbSNP: rs17593222
rs17593222
3 0.925 0.120 17 42360972 intron variant C/G snv 6.1E-02 0.010 1.000 1 2013 2013
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: rs1800896
rs1800896
113 0.507 0.800 1 206773552 intron variant T/C snv 0.41 0.010 1.000 1 2016 2016
dbSNP: rs2048722
rs2048722
TPO
2 0.925 2 1492028 intron variant A/G snv 0.51 0.010 1.000 1 2017 2017
dbSNP: rs2071400
rs2071400
TPO
3 0.882 0.120 2 1412867 intron variant C/T snv 0.11 0.010 1.000 1 2017 2017
dbSNP: rs2227478
rs2227478
2 0.925 0.040 12 68254842 upstream gene variant A/G snv 0.37 0.010 1.000 1 2017 2017
dbSNP: rs2276886
rs2276886
3 0.882 0.120 4 76007275 intron variant C/A;T snv 0.010 1.000 1 2016 2016
dbSNP: rs2280381
rs2280381
3 0.882 0.080 16 85985027 intron variant C/T snv 0.64 0.010 1.000 1 2015 2015
dbSNP: rs2292399
rs2292399
1 1.000 8 49074671 3 prime UTR variant A/G snv 0.31 0.010 1.000 1 2009 2009
dbSNP: rs2618431
rs2618431
2 0.925 0.120 8 11466955 intron variant A/G snv 0.87 0.010 1.000 1 2018 2018
dbSNP: rs2736340
rs2736340
22 0.683 0.480 8 11486464 upstream gene variant C/T snv 0.25 0.010 1.000 1 2019 2019
dbSNP: rs28665122
rs28665122
7 0.807 0.240 15 101277522 upstream gene variant C/T snv 0.24 0.010 1.000 1 2017 2017
dbSNP: rs2900180
rs2900180
5 0.827 0.280 9 120944104 regulatory region variant T/A;C snv 0.010 1.000 1 2016 2016
dbSNP: rs2903692
rs2903692
6 0.807 0.360 16 11144926 intron variant G/A snv 0.33 0.010 1.000 1 2009 2009