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: rs1042714
rs1042714
ADRB2
54 0.597 0.640 5 148826910 stop gained G/C;T snv 0.68 0.010 1.000 1 2001 2001
dbSNP: rs13361189
rs13361189 		13 0.752 0.240 5 150843825 upstream gene variant T/C snv 0.21 0.010 < 0.001 1 2019 2019
dbSNP: rs1799945
rs1799945
HFE ; LOC108783645
226 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.060 0.833 6 2006 2012
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
262 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.030 0.667 3 1998 2009
dbSNP: rs1346324047
rs1346324047
LPA
1 1.000 0.040 6 160640717 missense variant G/A snv 0.010 1.000 1 2019 2019
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 2016 2016
dbSNP: rs2645424
rs2645424
FDFT1
5 0.827 0.120 8 11826954 intron variant A/C;G snv 0.56 0.020 1.000 2 2013 2014
dbSNP: rs13266634
rs13266634
SLC30A8 ; LOC105375716
23 0.724 0.480 8 117172544 missense variant C/A;T snv 0.29 0.010 1.000 1 2019 2019
dbSNP: rs4240624
rs4240624
LOC157273
5 0.882 0.040 8 9326721 intron variant G/A snv 0.87 0.010 1.000 1 2013 2013
dbSNP: rs1554888939
rs1554888939
EHMT1
58 0.683 0.640 9 137798823 missense variant G/T snv 0.700 0
dbSNP: rs12784396
rs12784396
CWF19L1
4 0.925 0.040 10 100267650 5 prime UTR variant C/A;T snv 0.010 1.000 1 2013 2013
dbSNP: rs2862954
rs2862954
ERLIN1
2 0.925 0.040 10 100152307 missense variant T/C snv 0.34 0.32 0.010 1.000 1 2013 2013
dbSNP: rs2854116
rs2854116
APOC3
7 0.807 0.200 11 116829453 upstream gene variant C/T snv 0.51 0.020 1.000 2 2012 2017
dbSNP: rs12785878
rs12785878
NADSYN1
25 0.677 0.520 11 71456403 intron variant G/A;T snv 0.010 1.000 1 2018 2018
dbSNP: rs2070666
rs2070666
APOC3
4 0.882 0.120 11 116830958 intron variant T/A;C snv 0.010 1.000 1 2016 2016
dbSNP: rs3829251
rs3829251
NADSYN1
8 0.851 0.120 11 71483513 intron variant G/A snv 0.21 0.010 1.000 1 2018 2018
dbSNP: rs748204991
rs748204991
ST14
1 1.000 0.040 11 130196396 missense variant G/A snv 2.1E-05 7.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs2228570
rs2228570
VDR
99 0.521 0.760 12 47879112 start lost A/C;G;T snv 0.63 0.010 1.000 1 2018 2018
dbSNP: rs671
rs671
ALDH2
116 0.529 0.840 12 111803962 missense variant G/A snv 1.9E-02 5.8E-03 0.010 1.000 1 2018 2018
dbSNP: rs940553638
rs940553638
ALDH2
6 0.827 0.200 12 111783222 missense variant G/A snv 1.6E-05 7.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs267606959
rs267606959
POLG
19 0.732 0.200 15 89318986 missense variant G/A snv 2.0E-05 0.700 1.000 2 2010 2011
dbSNP: rs1800588
rs1800588
LIPC ; ALDH1A2
16 0.790 0.200 15 58431476 intron variant C/G;T snv 0.30 0.010 1.000 1 2015 2015
dbSNP: rs1800777
rs1800777
CETP
17 0.724 0.280 16 56983407 missense variant G/A snv 3.7E-02 2.8E-02 0.010 1.000 1 2018 2018
dbSNP: rs3865188
rs3865188 		10 0.790 0.320 16 82617112 intergenic variant A/G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs9939609
rs9939609
FTO
98 0.559 0.720 16 53786615 intron variant T/A snv 0.41 0.010 1.000 1 2014 2014