Source: ALL
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: rs6025
rs6025
F5
43 0.637 0.560 1 169549811 missense variant C/T snv 1.8E-02 0.740 0.400 5 1996 2016
dbSNP: rs2200733
rs2200733 		12 0.752 0.240 4 110789013 intergenic variant C/T snv 0.18 0.730 0.750 4 2008 2016
dbSNP: rs10744777
rs10744777
ALDH2
1 1.000 0.080 12 111795214 intron variant T/C snv 0.53 0.720 1.000 3 2014 2018
dbSNP: rs1799963
rs1799963
F2
25 0.695 0.400 11 46739505 3 prime UTR variant G/A snv 9.6E-03 0.720 1.000 3 2015 2016
dbSNP: rs505922
rs505922
ABO
34 0.689 0.520 9 133273813 intron variant C/T snv 0.720 1.000 3 2013 2018
dbSNP: rs529565
rs529565
ABO
13 0.851 0.120 9 133274084 intron variant C/T snv 0.720 0.667 3 2016 2018
dbSNP: rs2107595
rs2107595 		15 0.732 0.280 7 19009765 regulatory region variant G/A snv 0.19 0.710 0.667 3 2015 2018
dbSNP: rs11196288
rs11196288 		2 1.000 0.080 10 113297684 regulatory region variant A/G snv 5.5E-02 0.710 1.000 2 2016 2017
dbSNP: rs7193343
rs7193343
ZFHX3
3 0.882 0.120 16 72995261 intron variant T/A;C snv 0.710 1.000 2 2014 2016
dbSNP: rs635634
rs635634 		22 0.882 0.160 9 133279427 upstream gene variant T/A;C snv 0.700 1.000 2 2017 2018
dbSNP: rs10400694
rs10400694 		1 1.000 0.080 14 84147550 intergenic variant G/C;T snv 0.700 1.000 1 2015 2015
dbSNP: rs1052053
rs1052053
PMF1 ; PMF1-BGLAP
3 1.000 0.080 1 156232382 missense variant A/C;G snv 1.0E-03; 0.38 0.700 1.000 1 2018 2018
dbSNP: rs113092656
rs113092656 		5 0.882 0.120 6 11615072 intergenic variant G/A snv 2.6E-02 0.700 1.000 1 2016 2016
dbSNP: rs114209171
rs114209171
FUNDC2
5 0.882 0.120 X 155050522 non coding transcript exon variant T/C snv 0.23 0.700 1.000 1 2016 2016
dbSNP: rs11498973
rs11498973 		1 1.000 0.080 10 84732025 intergenic variant A/C snv 0.19 0.700 1.000 1 2019 2019
dbSNP: rs11513729
rs11513729 		5 1.000 0.080 12 111835695 downstream gene variant C/T snv 0.29 0.700 1.000 1 2017 2017
dbSNP: rs11572061
rs11572061
CDC5L
1 1.000 0.080 6 44448340 3 prime UTR variant A/G snv 8.7E-03 0.700 1.000 1 2015 2015
dbSNP: rs116902978
rs116902978 		1 1.000 0.080 13 65253855 regulatory region variant T/G snv 2.5E-02 0.700 1.000 1 2019 2019
dbSNP: rs117440128
rs117440128
RUNX1
1 1.000 0.080 21 35801864 intron variant G/A snv 6.2E-03 0.700 1.000 1 2019 2019
dbSNP: rs11867415
rs11867415
PRPF8
1 1.000 0.080 17 1668524 intron variant A/G snv 0.19 0.700 1.000 1 2018 2018
dbSNP: rs11957829
rs11957829
LOC100505841
2 1.000 0.080 5 122179500 intron variant A/G snv 0.18 0.19 0.700 1.000 1 2018 2018
dbSNP: rs11984041
rs11984041
HDAC9
3 0.925 0.080 7 18992312 intron variant C/T snv 0.13 0.700 1.000 1 2016 2016
dbSNP: rs12122341
rs12122341 		2 1.000 0.080 1 115113069 regulatory region variant C/G snv 0.19 0.700 1.000 1 2016 2016
dbSNP: rs12438353
rs12438353
AGBL1
1 1.000 0.080 15 86771849 intron variant C/T snv 0.38 0.700 1.000 1 2015 2015
dbSNP: rs12445022
rs12445022 		2 1.000 0.080 16 87541726 intergenic variant G/A snv 0.27 0.700 1.000 1 2018 2018