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: rs969885
rs969885 		2 0.925 0.040 21 25558821 upstream gene variant C/T snv 8.2E-02 0.010 1.000 1 2015 2015
dbSNP: rs1045642
rs1045642
ABCB1
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.100 0.750 32 2005 2018
dbSNP: rs2032582
rs2032582
ABCB1
97 0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02 0.080 0.875 8 2007 2018
dbSNP: rs1128503
rs1128503
ABCB1
64 0.564 0.760 7 87550285 synonymous variant A/G snv 0.54 0.63 0.030 0.667 3 2009 2011
dbSNP: rs10234411
rs10234411
ABCB1
1 1.000 0.040 7 87535576 intron variant T/A;C;G snv 0.010 1.000 1 2015 2015
dbSNP: rs199516560
rs199516560
ABCB1
5 0.851 0.200 7 87600772 5 prime UTR variant G/A snv 2.1E-05 0.010 1.000 1 2009 2009
dbSNP: rs3789243
rs3789243
ABCB1
14 0.776 0.120 7 87591570 intron variant A/G snv 0.50 0.010 < 0.001 1 2011 2011
dbSNP: rs6949448
rs6949448
ABCB1
1 1.000 0.040 7 87512498 intron variant T/C snv 0.63 0.010 < 0.001 1 2011 2011
dbSNP: rs2273697
rs2273697
ABCC2
11 0.776 0.360 10 99804058 missense variant G/A snv 0.19 0.19 0.060 1.000 6 2014 2018
dbSNP: rs3740066
rs3740066
ABCC2
20 0.724 0.440 10 99844450 missense variant C/G;T snv 2.4E-05; 0.34 0.010 1.000 1 2014 2014
dbSNP: rs717620
rs717620
ABCC2
10 0.763 0.240 10 99782821 5 prime UTR variant C/T snv 0.17 0.15 0.010 1.000 1 2016 2016
dbSNP: rs1285524167
rs1285524167
ABCC8
8 0.807 0.280 11 17475004 missense variant C/T snv 8.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs2231142
rs2231142
ABCG2
56 0.583 0.680 4 88131171 missense variant G/C;T snv 4.0E-06; 0.12 0.020 1.000 2 2016 2018
dbSNP: rs28941773
rs28941773
ACADS
2 0.925 0.120 12 120739168 missense variant C/T snv 2.0E-04 2.0E-04 0.010 1.000 1 2011 2011
dbSNP: rs768441855
rs768441855
ADGRG1
2 0.925 0.080 16 57655441 stop gained C/G;T snv 4.0E-06; 1.2E-05 0.010 1.000 1 2015 2015
dbSNP: rs2070600
rs2070600
AGER
82 0.561 0.760 6 32183666 missense variant C/T snv 5.3E-02 3.6E-02 0.010 1.000 1 2016 2016
dbSNP: rs10157763
rs10157763
AKT3
2 1.000 0.040 1 243831739 intron variant T/A;C snv 0.010 1.000 1 2016 2016
dbSNP: rs121912707
rs121912707
ALDH7A1
3 0.925 0.040 5 126552059 missense variant C/G snv 3.6E-04 2.4E-04 0.010 1.000 1 2018 2018
dbSNP: rs192669225
rs192669225
AMPD2
3 0.925 0.040 1 109628692 missense variant G/A snv 0.700 0
dbSNP: rs1800497
rs1800497
ANKK1
56 0.620 0.400 11 113400106 missense variant G/A snv 0.26 0.26 0.020 1.000 2 2013 2018
dbSNP: rs7412
rs7412
APOE
47 0.641 0.640 19 44908822 missense variant C/T snv 6.2E-02 7.9E-02 0.010 1.000 1 2019 2019
dbSNP: rs730882200
rs730882200
ARFGEF2
3 0.882 0.040 20 48953604 frameshift variant -/C delins 0.700 0
dbSNP: rs1378981995
rs1378981995
ARL13B
3 0.925 0.200 3 94003751 missense variant G/A snv 7.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs121918612
rs121918612
ATP1A2
3 0.925 0.040 1 160127704 missense variant G/A snv 0.010 1.000 1 2018 2018
dbSNP: rs1558005340
rs1558005340
ATP1A2
4 0.851 0.280 1 160127638 frameshift variant C/- del 0.700 1.000 1 2020 2020