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: rs1333049
rs1333049
CDKN2B-AS1
60 0.614 0.520 9 22125504 intron variant G/C snv 0.41 0.100 1.000 15 2008 2019
dbSNP: rs4977574
rs4977574
CDKN2B-AS1
26 0.695 0.520 9 22098575 intron variant A/G;T snv 0.880 1.000 10 2007 2018
dbSNP: rs10757274
rs10757274
CDKN2B-AS1
22 0.701 0.320 9 22096056 intron variant A/G snv 0.41 0.090 1.000 9 2008 2018
dbSNP: rs2383207
rs2383207
CDKN2B-AS1
22 0.695 0.280 9 22115960 intron variant A/G snv 0.64 0.770 1.000 8 2007 2013
dbSNP: rs6929846
rs6929846
BTN2A1
10 0.827 0.160 6 26458037 5 prime UTR variant T/C snv 0.70 0.780 1.000 8 2011 2014
dbSNP: rs3850641
rs3850641
TNFSF4
17 0.716 0.400 1 173206693 intron variant A/G snv 0.14 0.060 1.000 6 2005 2019
dbSNP: rs1042714
rs1042714
ADRB2
54 0.597 0.640 5 148826910 stop gained G/C;T snv 0.68 0.050 1.000 5 2002 2018
dbSNP: rs17465637
rs17465637
MIA3
11 0.790 0.200 1 222650187 intron variant A/C;G;T snv 0.64; 6.4E-06 0.840 1.000 5 2008 2012
dbSNP: rs2070744
rs2070744
NOS3
54 0.608 0.680 7 150992991 intron variant C/T snv 0.70 0.050 1.000 5 2013 2019
dbSNP: rs1045642
rs1045642
ABCB1
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.040 1.000 4 2009 2014
dbSNP: rs1051931
rs1051931
PLA2G7
19 0.708 0.400 6 46705206 missense variant A/G snv 0.81 0.79 0.040 1.000 4 2003 2011
dbSNP: rs1131012
rs1131012
PECAM1
10 0.763 0.280 17 64350416 missense variant T/C snv 0.38 0.040 1.000 4 2001 2013
dbSNP: rs12953
rs12953
PECAM1
9 0.763 0.200 17 64356203 missense variant C/A;T snv 0.38 0.040 1.000 4 2001 2013
dbSNP: rs1333045
rs1333045
CDKN2B-AS1
14 0.776 0.280 9 22119196 non coding transcript exon variant T/C snv 0.50 0.730 1.000 4 2007 2018
dbSNP: rs2383206
rs2383206
CDKN2B-AS1
17 0.742 0.320 9 22115027 intron variant A/G snv 0.49 0.040 1.000 4 2008 2012
dbSNP: rs2569512
rs2569512
ILF3
5 0.925 0.080 19 10679486 intron variant T/C snv 0.76 0.740 1.000 4 2011 2011
dbSNP: rs281865545
rs281865545
PECAM1
18 0.695 0.360 17 64377836 missense variant C/G;T snv 0.040 1.000 4 2003 2016
dbSNP: rs3782886
rs3782886
BRAP
22 0.724 0.480 12 111672685 synonymous variant T/C snv 1.9E-02 5.9E-03 0.820 1.000 4 2011 2019
dbSNP: rs5985
rs5985
F13A1
20 0.724 0.280 6 6318562 missense variant C/A;T snv 0.20; 2.4E-05 0.040 1.000 4 2002 2019
dbSNP: rs671
rs671
ALDH2
116 0.529 0.840 12 111803962 missense variant G/A snv 1.9E-02 5.8E-03 0.040 1.000 4 2007 2014
dbSNP: rs6922269
rs6922269
MTHFD1L
7 0.807 0.200 6 150931849 intron variant G/A snv 0.35 0.040 1.000 4 2010 2015
dbSNP: rs9925481
rs9925481
CLEC16A
5 0.882 0.160 16 11003622 intron variant C/G;T snv 0.730 1.000 4 2009 2011
dbSNP: rs1042579
rs1042579
THBD
16 0.732 0.240 20 23048087 missense variant G/A;T snv 0.19 0.030 1.000 3 2002 2004
dbSNP: rs1042713
rs1042713
ADRB2
63 0.576 0.800 5 148826877 missense variant G/A snv 0.42 0.43 0.030 1.000 3 2005 2010
dbSNP: rs10738607
rs10738607
CDKN2B-AS1
4 0.925 0.080 9 22088095 intron variant A/G snv 0.42 0.810 1.000 3 2007 2018