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: rs1250229
rs1250229 		4 1.000 0.040 2 215439661 upstream gene variant T/C snv 0.77 0.700 1.000 2 2017 2018
dbSNP: rs140570886
rs140570886
LPA
3 1.000 0.040 6 160591981 intron variant T/C snv 2.8E-02 0.700 1.000 2 2017 2018
dbSNP: rs170364
rs170364
CX3CL1
1 1.000 0.040 16 57376022 intron variant T/G snv 0.74 0.020 1.000 2 2015 2015
dbSNP: rs17114046
rs17114046
PLPP3
2 0.925 0.040 1 56500678 intron variant A/G snv 0.12 0.700 1.000 2 2018 2018
dbSNP: rs1746049
rs1746049 		1 1.000 0.040 10 44280862 downstream gene variant C/T snv 0.23 0.800 1.000 2 2007 2016
dbSNP: rs17843797
rs17843797
UMPS
1 1.000 0.040 3 124734175 intron variant T/G snv 0.10 0.700 1.000 2 2017 2018
dbSNP: rs186696265
rs186696265 		6 0.882 0.040 6 160690668 intergenic variant C/T snv 1.0E-02 0.710 1.000 2 2017 2018
dbSNP: rs2246942
rs2246942
LIPA
2 0.925 0.040 10 89245129 intron variant A/C;G snv 0.700 1.000 2 2017 2018
dbSNP: rs2252641
rs2252641
TEX41 ; LOC100505498
2 1.000 0.040 2 145043894 non coding transcript exon variant T/C;G snv 0.58 0.800 1.000 2 2013 2018
dbSNP: rs2254638
rs2254638
N6AMT1
3 0.882 0.040 21 28883961 intron variant A/C;G snv 0.020 1.000 2 2017 2018
dbSNP: rs246600
rs246600
ARHGAP26
1 1.000 0.040 5 143137332 intron variant C/T snv 0.42 0.800 1.000 2 2013 2018
dbSNP: rs247616
rs247616 		8 1.000 0.040 16 56955678 intergenic variant C/T snv 0.29 0.710 1.000 2 2017 2018
dbSNP: rs273909
rs273909
SLC22A4 ; MIR3936HG
1 1.000 0.040 5 132331660 intron variant A/G snv 9.5E-02 0.800 1.000 2 2013 2018
dbSNP: rs2820315
rs2820315
LMOD1
5 0.882 0.040 1 201903136 intron variant C/T snv 0.23 0.710 1.000 2 2017 2018
dbSNP: rs2839812
rs2839812 		1 1.000 0.040 11 103802566 intron variant T/A;C snv 0.700 1.000 2 2017 2018
dbSNP: rs2972146
rs2972146 		9 0.882 0.040 2 226235982 intergenic variant G/T snv 0.72 0.710 1.000 2 2013 2017
dbSNP: rs3127599
rs3127599
LPAL2
2 0.925 0.040 6 160486102 intron variant C/T snv 0.28 0.710 1.000 2 2009 2012
dbSNP: rs41272114
rs41272114
LPA
2 1.000 0.040 6 160585045 splice donor variant C/A;T snv 1.2E-05; 4.1E-02 0.710 1.000 2 2014 2018
dbSNP: rs4886605
rs4886605 		2 0.925 0.040 15 74733647 intergenic variant C/G;T snv 0.020 1.000 2 2014 2017
dbSNP: rs4932373
rs4932373
FES
2 1.000 0.040 15 90886057 intron variant A/C snv 0.25 0.700 1.000 2 2018 2018
dbSNP: rs507666
rs507666
ABO
8 1.000 0.040 9 133273983 intron variant A/G snv 0.700 1.000 2 2017 2018
dbSNP: rs565470
rs565470
COL4A1
3 0.882 0.040 13 110186299 intron variant A/G snv 0.68 0.020 1.000 2 2013 2018
dbSNP: rs590121
rs590121
SERPINH1
1 1.000 0.040 11 75563105 5 prime UTR variant G/T snv 0.36 0.800 1.000 2 2013 2018
dbSNP: rs6020
rs6020
F5
3 0.882 0.040 1 169549874 missense variant C/T snv 0.11 0.12 0.020 1.000 2 2000 2000
dbSNP: rs605143
rs605143
COL4A1
3 0.882 0.040 13 110196387 intron variant C/T snv 0.34 0.020 1.000 2 2013 2018