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: rs11573191
rs11573191
PLA2G5
2 1.000 0.040 1 20069922 intron variant G/A snv 0.18 0.010 1.000 1 2014 2014
dbSNP: rs1177506410
rs1177506410
AGT
12 0.776 0.240 1 230706148 missense variant G/C snv 4.0E-06 7.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2001 2001
dbSNP: rs1275805226
rs1275805226
AGT
12 0.776 0.240 1 230706148 frameshift variant G/- del 7.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs1458766475
rs1458766475
SELE ; C1orf112
41 0.637 0.680 1 169732649 missense variant C/G;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs1800896
rs1800896
IL10 ; IL19
113 0.507 0.800 1 206773552 intron variant T/C snv 0.41 0.010 1.000 1 2018 2018
dbSNP: rs5361
rs5361
SELE ; C1orf112
47 0.623 0.720 1 169731919 missense variant T/G snv 8.3E-02; 8.0E-06 7.8E-02 0.010 1.000 1 2003 2003
dbSNP: rs646776
rs646776
CELSR2
25 0.752 0.240 1 109275908 downstream gene variant C/T snv 0.74 0.010 1.000 1 2019 2019
dbSNP: rs730880284
rs730880284
SELP
1 1 169612928 splice donor variant C/G;T snv 2.8E-05 0.700 0
dbSNP: rs1229984
rs1229984
ADH1B
83 0.570 0.560 4 99318162 missense variant T/C;G snv 0.90 0.010 1.000 1 2007 2007
dbSNP: rs35385902
rs35385902
ADH1B ; ADH1C
9 0.807 0.240 4 99347122 missense variant C/A;T snv 2.0E-05; 1.1E-03 0.010 1.000 1 2007 2007
dbSNP: rs1866389
rs1866389
THBS4
9 0.790 0.080 5 80065442 missense variant G/C snv 0.17 0.17 0.010 1.000 1 2002 2002
dbSNP: rs2026458
rs2026458
PHACTR1
6 0.882 0.080 6 12825642 intron variant C/T snv 0.34 0.010 1.000 1 2016 2016
dbSNP: rs3869109
rs3869109 		5 0.851 0.160 6 31216419 intergenic variant A/G;T snv 0.010 1.000 1 2013 2013
dbSNP: rs761646500
rs761646500
THBS2 ; LOC101929523
3 0.925 0.080 6 169237763 missense variant C/G snv 4.0E-06 0.010 1.000 1 2002 2002
dbSNP: rs9349379
rs9349379
PHACTR1
19 0.732 0.200 6 12903725 intron variant A/G snv 0.32 0.010 1.000 1 2016 2016
dbSNP: rs1799983
rs1799983
NOS3
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.030 1.000 3 2005 2017
dbSNP: rs1800795
rs1800795
IL6 ; STEAP1B ; IL6-AS1
140 0.494 0.840 7 22727026 intron variant C/G snv 0.71 0.010 1.000 1 2017 2017
dbSNP: rs662
rs662
PON1
157 0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42 0.010 1.000 1 2007 2007
dbSNP: rs10757278
rs10757278
CDKN2B-AS1
44 0.620 0.520 9 22124478 intron variant A/G snv 0.40 0.010 1.000 1 2012 2012
dbSNP: rs137854498
rs137854498
ABCA1
3 1.000 0.120 9 104798504 missense variant G/A;T snv 8.0E-06; 8.0E-06 0.010 1.000 1 2002 2002
dbSNP: rs2230806
rs2230806
ABCA1
24 0.689 0.280 9 104858586 missense variant C/T snv 0.32 0.39 0.010 1.000 1 2015 2015
dbSNP: rs7044343
rs7044343
IL33 ; LOC107987046
13 0.752 0.520 9 6254208 intron variant C/T snv 0.51 0.010 1.000 1 2017 2017
dbSNP: rs9282541
rs9282541
ABCA1
13 0.790 0.160 9 104858554 missense variant G/A snv 1.3E-02 4.4E-03 0.010 1.000 1 2012 2012
dbSNP: rs150016118
rs150016118
UCP3
6 0.882 0.120 11 74006339 missense variant A/G snv 1.7E-05 6.3E-05 0.010 1.000 1 2019 2019