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: rs2107595
rs2107595 		15 0.732 0.280 7 19009765 regulatory region variant G/A snv 0.19 0.010 1.000 1 2016 2016
dbSNP: rs2768759
rs2768759 		4 0.851 0.200 1 156882671 downstream gene variant A/C;G snv 0.010 1.000 1 2018 2018
dbSNP: rs3092920
rs3092920 		2 0.925 0.160 X 136661832 downstream gene variant G/T snv 0.23 0.010 < 0.001 1 2019 2019
dbSNP: rs3092952
rs3092952 		3 0.925 0.160 X 136644791 upstream gene variant A/G snv 0.29 0.010 < 0.001 1 2019 2019
dbSNP: rs579459
rs579459 		28 0.752 0.320 9 133278724 upstream gene variant C/T snv 0.81 0.010 1.000 1 2013 2013
dbSNP: rs6141803
rs6141803 		2 1.000 0.120 20 32752550 TF binding site variant T/C snv 0.13 0.010 1.000 1 2013 2013
dbSNP: rs8075977
rs8075977 		5 0.827 0.160 17 1757507 upstream gene variant T/C snv 0.37 0.010 1.000 1 2018 2018
dbSNP: rs1239681664
rs1239681664
ABCA1
15 0.716 0.320 9 104818690 synonymous variant A/G snv 7.0E-06 0.020 1.000 2 2014 2014
dbSNP: rs559110055
rs559110055
ABCA1
2 0.925 0.160 9 104840491 missense variant A/G snv 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs1045642
rs1045642
ABCB1
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.020 1.000 2 2014 2014
dbSNP: rs676457
rs676457
ABO
3 1.000 0.120 9 133270797 intron variant T/A snv 0.010 1.000 1 2015 2015
dbSNP: rs1267969615
rs1267969615
ACE
100 0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs4343
rs4343
ACE
14 0.742 0.480 17 63488670 synonymous variant G/A snv 0.53 0.010 1.000 1 2020 2020
dbSNP: rs1994016
rs1994016
ADAMTS7
7 0.851 0.160 15 78787892 intron variant C/T snv 0.30 0.010 1.000 1 2018 2018
dbSNP: rs2241766
rs2241766
ADIPOQ ; ADIPOQ-AS1
48 0.608 0.720 3 186853103 synonymous variant T/C;G snv 8.0E-06; 0.13 0.010 1.000 1 2013 2013
dbSNP: rs1801253
rs1801253
ADRB1
34 0.683 0.440 10 114045297 missense variant G/C snv 0.74 0.69 0.020 1.000 2 2005 2016
dbSNP: rs1801252
rs1801252
ADRB1
17 0.724 0.320 10 114044277 missense variant A/G snv 0.15 0.17 0.010 1.000 1 2005 2005
dbSNP: rs1042714
rs1042714
ADRB2
54 0.597 0.640 5 148826910 stop gained G/C;T snv 0.68 0.020 1.000 2 2005 2017
dbSNP: rs1042713
rs1042713
ADRB2
63 0.576 0.800 5 148826877 missense variant G/A snv 0.42 0.43 0.010 1.000 1 2005 2005
dbSNP: rs699
rs699
AGT
134 0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58 0.010 1.000 1 2005 2005
dbSNP: rs671
rs671
ALDH2
116 0.529 0.840 12 111803962 missense variant G/A snv 1.9E-02 5.8E-03 0.020 1.000 2 2011 2018
dbSNP: rs2029253
rs2029253
ALOX5
3 0.925 0.200 10 45396036 intron variant A/G snv 0.37 0.010 1.000 1 2008 2008
dbSNP: rs10507391
rs10507391
ALOX5AP
10 0.776 0.320 13 30737959 intron variant A/T snv 0.52 0.010 < 0.001 1 2014 2014
dbSNP: rs4769874
rs4769874
ALOX5AP
5 0.827 0.240 13 30752304 intron variant G/A snv 5.8E-02 0.010 1.000 1 2014 2014
dbSNP: rs9508835
rs9508835
ALOX5AP
1 1.000 0.120 13 30760561 intron variant C/A snv 0.23 0.010 1.000 1 2008 2008