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: rs10399931
rs10399931
CHI3L1
6 0.807 0.320 1 203186952 upstream gene variant T/A;C snv 0.010 < 0.001 1 2012 2012
dbSNP: rs1044250
rs1044250
ANGPTL4
12 0.807 0.240 19 8371280 missense variant C/T snv 0.30 0.29 0.010 < 0.001 1 2010 2010
dbSNP: rs1049007
rs1049007
BMP2
1 1.000 0.040 20 6770387 synonymous variant A/C;G snv 0.67 0.010 < 0.001 1 2016 2016
dbSNP: rs1063856
rs1063856
VWF
14 0.763 0.400 12 6044368 missense variant T/C;G snv 0.31 0.010 < 0.001 1 2005 2005
dbSNP: rs10744182
rs10744182
SCARB1
1 1.000 0.040 12 124833036 intron variant C/T snv 0.49 0.010 < 0.001 1 2017 2017
dbSNP: rs11134527
rs11134527
SLIT3 ; MIR218-2
24 0.677 0.400 5 168768351 intron variant G/A snv 0.25 0.010 < 0.001 1 2013 2013
dbSNP: rs11572103
rs11572103
CYP2C8
4 0.851 0.120 10 95058349 missense variant T/A snv 1.6E-02 4.9E-02 0.010 < 0.001 1 2007 2007
dbSNP: rs12567209
rs12567209 		6 0.807 0.080 1 162066689 upstream gene variant G/A snv 8.6E-02 0.010 < 0.001 1 2009 2009
dbSNP: rs1420101
rs1420101
IL18R1 ; IL1RL1
8 0.827 0.280 2 102341256 synonymous variant C/T snv 0.33 0.35 0.010 < 0.001 1 2013 2013
dbSNP: rs16847548
rs16847548 		8 0.807 0.120 1 162065484 upstream gene variant T/C snv 0.22 0.010 < 0.001 1 2009 2009
dbSNP: rs16874954
rs16874954
PLA2G7
2 0.925 0.040 6 46709361 missense variant C/A snv 0.010 < 0.001 1 2018 2018
dbSNP: rs17563
rs17563
BMP4
8 0.790 0.320 14 53950804 stop lost A/G snv 0.45 0.44 0.010 < 0.001 1 2016 2016
dbSNP: rs1800730
rs1800730
HFE ; LOC108783645
32 0.649 0.480 6 26090957 missense variant A/T snv 1.0E-02 1.0E-02 0.010 < 0.001 1 2013 2013
dbSNP: rs1866389
rs1866389
THBS4
9 0.790 0.080 5 80065442 missense variant G/C snv 0.17 0.17 0.010 < 0.001 1 2004 2004
dbSNP: rs2000813
rs2000813
LIPG
9 0.763 0.200 18 49567494 missense variant C/A;T snv 4.0E-06; 0.27; 4.0E-06 0.23 0.010 < 0.001 1 2009 2009
dbSNP: rs2015086
rs2015086
CCL18
4 0.882 0.040 17 36064257 upstream gene variant A/G snv 0.22 0.010 < 0.001 1 2009 2009
dbSNP: rs2070583
rs2070583
MYC
1 1.000 0.040 8 127741008 3 prime UTR variant A/G snv 4.2E-02 2.9E-02 0.010 < 0.001 1 2014 2014
dbSNP: rs2075674
rs2075674
TFR2
2 1.000 0.040 7 100627408 synonymous variant G/A snv 0.18 0.16 0.010 < 0.001 1 2014 2014
dbSNP: rs216311
rs216311
VWF
7 0.882 0.040 12 6019277 missense variant T/A;C snv 4.0E-06; 0.69 0.010 < 0.001 1 2012 2012
dbSNP: rs2200733
rs2200733 		12 0.752 0.240 4 110789013 intergenic variant C/T snv 0.18 0.010 < 0.001 1 2018 2018
dbSNP: rs223469
rs223469
LOC102723704
1 1.000 0.040 4 102778621 intergenic variant T/C snv 0.99 0.010 < 0.001 1 2009 2009
dbSNP: rs2277680
rs2277680
CXCL16
10 0.776 0.160 17 4735268 missense variant G/A snv 0.47 0.41 0.010 < 0.001 1 2011 2011
dbSNP: rs2288349
rs2288349
DNMT1
5 0.882 0.120 19 10146569 intron variant G/A snv 0.36 0.35 0.010 < 0.001 1 2015 2015
dbSNP: rs235768
rs235768
BMP2
8 0.807 0.160 20 6778468 missense variant A/G;T snv 0.67 0.010 < 0.001 1 2016 2016
dbSNP: rs2430561
rs2430561
IFNG ; IFNG-AS1
50 0.590 0.760 12 68158742 intron variant T/A snv 0.36 0.010 < 0.001 1 2013 2013