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: rs9989419
rs9989419 		11 0.882 0.120 16 56951227 regulatory region variant A/G snv 0.55 0.010 1.000 1 2013 2013
dbSNP: rs2230806
rs2230806
ABCA1
24 0.689 0.280 9 104858586 missense variant C/T snv 0.32 0.39 0.090 1.000 9 2003 2019
dbSNP: rs4149313
rs4149313
ABCA1
9 0.763 0.240 9 104824472 missense variant T/C snv 0.030 1.000 3 2013 2019
dbSNP: rs1239681664
rs1239681664
ABCA1
15 0.716 0.320 9 104818690 synonymous variant A/G snv 7.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs146292819
rs146292819
ABCA1
9 0.790 0.240 9 104794495 missense variant T/G snv 2.9E-04 3.8E-04 0.010 1.000 1 2019 2019
dbSNP: rs532997003
rs532997003
ABCA1
3 0.882 0.040 9 104840464 missense variant T/C snv 2.0E-05 0.010 1.000 1 2005 2005
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 2019 2019
dbSNP: rs908832
rs908832
ABCA2
4 0.851 0.120 9 137018032 missense variant A/C;G snv 0.97 0.96 0.010 < 0.001 1 2006 2006
dbSNP: rs1045642
rs1045642
ABCB1
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.020 1.000 2 2013 2014
dbSNP: rs2032582
rs2032582
ABCB1
97 0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02 0.010 1.000 1 2013 2013
dbSNP: rs72653706
rs72653706
ABCC6
32 0.695 0.480 16 16163078 stop gained G/A snv 1.4E-03 1.2E-03 0.050 1.000 5 2002 2013
dbSNP: rs63751001
rs63751001
ABCC6
13 0.790 0.240 16 16159555 missense variant C/T snv 2.8E-05 0.010 1.000 1 2007 2007
dbSNP: rs11887534
rs11887534
ABCG5 ; ABCG8
29 0.653 0.440 2 43839108 missense variant G/A;C snv 6.4E-06; 6.7E-02 0.010 1.000 1 2010 2010
dbSNP: rs376307381
rs376307381
ACCS
2 0.925 0.080 11 44067827 missense variant G/C snv 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs1267969615
rs1267969615
ACE
100 0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06 0.020 1.000 2 2000 2001
dbSNP: rs142677199
rs142677199
ACE
4 0.882 0.040 17 63479897 missense variant G/A;T snv 3.2E-05 0.010 1.000 1 1999 1999
dbSNP: rs1799752
rs1799752
ACE
25 0.677 0.480 17 63488529 intron variant -/TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT delins 0.010 1.000 1 2016 2016
dbSNP: rs761401927
rs761401927
ACE
4 0.882 0.040 17 63488704 missense variant G/A snv 9.1E-05 0.010 1.000 1 1999 1999
dbSNP: rs428785
rs428785
ADAMTS1
3 0.882 0.040 21 26844276 missense variant C/A;G;T snv 1.3E-05; 0.70 0.78 0.010 1.000 1 2008 2008
dbSNP: rs4961
rs4961
ADD1
27 0.683 0.400 4 2904980 missense variant G/A;T snv 1.2E-05; 0.20 0.010 1.000 1 2007 2007
dbSNP: rs266729
rs266729
ADIPOQ
37 0.637 0.560 3 186841685 upstream gene variant C/A;G;T snv 0.020 1.000 2 2011 2011
dbSNP: rs182052
rs182052
ADIPOQ
19 0.701 0.440 3 186842993 intron variant G/A snv 0.38 0.010 1.000 1 2019 2019
dbSNP: rs2241766
rs2241766
ADIPOQ ; ADIPOQ-AS1
48 0.608 0.720 3 186853103 synonymous variant T/C;G snv 8.0E-06; 0.13 0.040 1.000 4 2010 2018
dbSNP: rs1501299
rs1501299
ADIPOQ ; ADIPOQ-AS1
52 0.597 0.720 3 186853334 intron variant G/C;T snv 0.030 1.000 3 2012 2018
dbSNP: rs17366743
rs17366743
ADIPOQ ; ADIPOQ-AS1
7 0.807 0.280 3 186854300 missense variant T/C snv 2.2E-02 2.1E-02 0.010 1.000 1 2019 2019