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: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.080 1.000 8 2003 2020
dbSNP: rs1800896
rs1800896
IL10 ; IL19
113 0.507 0.800 1 206773552 intron variant T/C snv 0.41 0.040 1.000 4 2017 2019
dbSNP: rs759853
rs759853
AKR1B1
6 0.827 0.320 7 134459206 non coding transcript exon variant G/A snv 0.33 0.040 1.000 4 2009 2019
dbSNP: rs12219125
rs12219125 		2 0.925 0.120 10 20304158 intergenic variant G/T snv 0.15 0.810 1.000 2 2011 2019
dbSNP: rs1800625
rs1800625
AGER ; PBX2
39 0.641 0.680 6 32184665 upstream gene variant A/G snv 0.15 0.020 1.000 2 2012 2019
dbSNP: rs3759890
rs3759890
SORD
2 0.925 0.160 15 45022396 upstream gene variant C/G snv 0.19 0.020 1.000 2 2013 2019
dbSNP: rs4462262
rs4462262 		2 0.925 0.120 10 57429418 intergenic variant T/C snv 0.55 0.810 1.000 2 2011 2019
dbSNP: rs869109213
rs869109213
NOS3
10 0.790 0.200 7 150997269 intron variant GGGGGTGAGGAAGTCTAGACCTGCTGCG/A delins 0.020 1.000 2 2018 2019
dbSNP: rs9362054
rs9362054
LINC01611 ; LOC107986620
3 0.882 0.160 6 84468550 intron variant T/C snv 0.52 0.710 1.000 2 2014 2019
dbSNP: rs1145612
rs1145612 		1 1.000 0.120 5 158271107 upstream gene variant C/A snv 0.49 0.010 < 0.001 1 2019 2019
dbSNP: rs114790220
rs114790220 		1 1.000 0.120 8 5306434 intergenic variant T/A;C snv 0.700 1.000 1 2019 2019
dbSNP: rs11549465
rs11549465
HIF1A ; HIF1A-AS3
55 0.597 0.680 14 61740839 missense variant C/T snv 8.8E-02 7.7E-02 0.010 1.000 1 2019 2019
dbSNP: rs11567245
rs11567245
CACNA2D1
1 1.000 0.120 7 82151406 intron variant T/A snv 0.010 < 0.001 1 2019 2019
dbSNP: rs11662496
rs11662496 		1 1.000 0.120 18 43695432 intergenic variant A/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs11771617
rs11771617 		1 1.000 0.120 7 125733372 intergenic variant A/G snv 0.20 0.700 1.000 1 2019 2019
dbSNP: rs12050217
rs12050217
BDKRB1
6 0.827 0.160 14 96262416 intron variant A/G snv 0.21 0.010 1.000 1 2019 2019
dbSNP: rs12656571
rs12656571
MAN2A1
1 1.000 0.120 5 109742339 intron variant G/A snv 0.17 0.700 1.000 1 2019 2019
dbSNP: rs142293996
rs142293996
NVL
1 1.000 0.120 1 224260357 intron variant C/A snv 1.1E-02 0.010 1.000 1 2019 2019
dbSNP: rs142610219
rs142610219
LOC107986902
1 1.000 0.120 8 115906039 intergenic variant A/T snv 2.7E-03 0.700 1.000 1 2019 2019
dbSNP: rs148995025
rs148995025
LINC02196
1 1.000 0.120 5 7085094 intron variant A/G snv 8.9E-03 0.700 1.000 1 2019 2019
dbSNP: rs17883901
rs17883901
GCLC
6 0.851 0.240 6 53545239 intron variant G/A;T snv 6.2E-02 0.010 1.000 1 2019 2019
dbSNP: rs184340784
rs184340784 		2 0.925 0.160 1 4529823 intergenic variant C/T snv 6.1E-04 0.700 1.000 1 2019 2019
dbSNP: rs200295620
rs200295620 		2 0.925 0.160 3 168172398 intergenic variant T/-;TT delins 5.7E-03 0.700 1.000 1 2019 2019
dbSNP: rs202069793
rs202069793
LOC107987105
1 1.000 0.120 9 104713014 intergenic variant GA/- delins 0.63 0.700 1.000 1 2019 2019
dbSNP: rs2055858
rs2055858
SORD
1 1.000 0.120 15 45022070 upstream gene variant G/C snv 0.19 0.010 1.000 1 2019 2019