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: rs10002268
rs10002268 		1 1.000 0.080 4 55653725 intergenic variant T/C snv 0.41 0.700 1.000 1 2011 2011
dbSNP: rs10484761
rs10484761 		7 0.807 0.080 6 40834522 intergenic variant T/C snv 0.31 0.700 1.000 1 2011 2011
dbSNP: rs12229654
rs12229654 		20 0.763 0.320 12 110976657 intergenic variant T/G snv 4.8E-03 0.700 1.000 1 2011 2011
dbSNP: rs12542990
rs12542990 		1 1.000 0.080 8 81122216 intergenic variant G/C snv 0.32 0.700 1.000 1 2011 2011
dbSNP: rs1321311
rs1321311 		15 0.742 0.160 6 36655123 regulatory region variant C/A snv 0.28 0.010 1.000 1 2015 2015
dbSNP: rs17028375
rs17028375 		1 1.000 0.080 2 64085008 downstream gene variant T/C snv 0.11 0.700 1.000 1 2011 2011
dbSNP: rs312986
rs312986 		3 0.925 0.080 18 1898710 intron variant A/G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs31563
rs31563 		5 0.851 0.160 5 135899917 intron variant C/A;T snv 0.010 1.000 1 2013 2013
dbSNP: rs4444235
rs4444235 		23 0.701 0.240 14 53944201 downstream gene variant T/C snv 0.43 0.010 1.000 1 2015 2015
dbSNP: rs6123557
rs6123557 		1 1.000 0.080 20 56232196 intergenic variant C/T snv 0.21 0.700 1.000 1 2011 2011
dbSNP: rs6772209
rs6772209 		2 1.000 0.080 3 175929377 intergenic variant G/A snv 4.1E-02 0.700 1.000 1 2011 2011
dbSNP: rs7726463
rs7726463 		1 1.000 0.080 5 37954971 intron variant T/C snv 9.1E-02 0.700 1.000 1 2011 2011
dbSNP: rs8030672
rs8030672 		2 1.000 0.080 15 68766745 intergenic variant T/A snv 5.4E-02 0.700 1.000 1 2011 2011
dbSNP: rs1045642
rs1045642
ABCB1
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 1.000 1 2011 2011
dbSNP: rs748676559
rs748676559
ACACA
3 0.925 0.080 17 37284932 missense variant C/T snv 4.0E-06 2.1E-05 0.010 1.000 1 1998 1998
dbSNP: rs11066008
rs11066008
ACAD10
1 1.000 0.080 12 111702865 intron variant A/G snv 9.1E-03 0.700 1.000 1 2011 2011
dbSNP: rs11066015
rs11066015
ACAD10
5 0.925 0.120 12 111730205 intron variant G/A snv 5.9E-03 0.700 1.000 1 2011 2011
dbSNP: rs1800682
rs1800682
ACTA2 ; FAS
32 0.637 0.440 10 88990206 non coding transcript exon variant A/G snv 0.54 0.010 1.000 1 2014 2014
dbSNP: rs1229984
rs1229984
ADH1B
83 0.570 0.560 4 99318162 missense variant T/C;G snv 0.90 0.750 1.000 6 2009 2016
dbSNP: rs698
rs698
ADH1B ; ADH1C
20 0.724 0.240 4 99339632 missense variant T/A;C snv 0.35 0.010 1.000 1 2013 2013
dbSNP: rs671
rs671
ALDH2
116 0.529 0.840 12 111803962 missense variant G/A snv 1.9E-02 5.8E-03 0.780 1.000 10 2001 2019
dbSNP: rs201745983
rs201745983
ALDH2
14 0.752 0.200 12 111783219 missense variant G/A snv 6.8E-05 7.7E-05 0.010 1.000 1 2010 2010
dbSNP: rs4646776
rs4646776
ALDH2
2 0.925 0.120 12 111792215 intron variant G/A;C snv 1.9E-02 5.8E-03 0.700 1.000 1 2011 2011
dbSNP: rs1463038513
rs1463038513
APC
36 0.658 0.440 5 112839511 frameshift variant TAAA/- delins 0.010 1.000 1 1999 1999
dbSNP: rs1801155
rs1801155
APC
42 0.649 0.440 5 112839514 missense variant T/A snv 8.0E-06; 2.0E-03 1.2E-03 0.010 1.000 1 1999 1999