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: rs1502593
rs1502593
SCD
3 1.000 0.040 10 100349445 intron variant G/A snv 0.34 0.010 1.000 1 2011 2011
dbSNP: rs6511435
rs6511435
ANGPTL6
1 1.000 0.040 19 10103816 upstream gene variant T/A;C;G snv 0.010 1.000 1 2009 2009
dbSNP: rs1799768
rs1799768
SERPINE1
6 0.807 0.360 7 101126425 upstream gene variant -/A;C ins 0.010 1.000 1 2009 2009
dbSNP: rs763351020
rs763351020
SERPINE1
35 0.633 0.560 7 101132046 missense variant C/T snv 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs4965373
rs4965373
SELENOS
1 1.000 0.040 15 101272190 non coding transcript exon variant A/G snv 0.74 0.010 1.000 1 2019 2019
dbSNP: rs28665122
rs28665122
SELENOS
7 0.807 0.240 15 101277522 upstream gene variant C/T snv 0.24 0.010 < 0.001 1 2019 2019
dbSNP: rs778035915
rs778035915
CHPT1
1 1.000 0.040 12 101698057 missense variant A/G snv 3.4E-05 7.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs5491
rs5491
ICAM1
6 0.827 0.160 19 10274864 missense variant A/G;T snv 4.0E-06; 2.8E-02 0.010 1.000 1 2010 2010
dbSNP: rs4684677
rs4684677
GHRL ; GHRLOS
13 0.742 0.360 3 10286769 missense variant T/A snv 0.10 6.6E-02 0.010 1.000 1 2005 2005
dbSNP: rs696217
rs696217
GHRL ; GHRLOS
32 0.662 0.640 3 10289773 missense variant G/T snv 8.8E-02 7.1E-02 0.020 1.000 2 2005 2008
dbSNP: rs34911341
rs34911341
GHRL ; GHRLOS
5 0.882 0.200 3 10289835 missense variant C/T snv 7.0E-03 7.3E-03 0.010 1.000 1 2005 2005
dbSNP: rs9514089
rs9514089
SLC10A2
3 0.882 0.080 13 103058487 intron variant T/C snv 0.41 0.010 1.000 1 2011 2011
dbSNP: rs362551
rs362551
SNAP25-AS1 ; LOC112268268
1 1.000 0.040 20 10314788 intron variant C/A;T snv 0.010 1.000 1 2015 2015
dbSNP: rs2294901
rs2294901
MKKS
1 1.000 0.040 20 10404855 3 prime UTR variant A/G snv 0.14 0.010 1.000 1 2009 2009
dbSNP: rs1545
rs1545
MKKS
2 0.925 0.080 20 10405365 missense variant C/A snv 0.14 0.14 0.010 1.000 1 2009 2009
dbSNP: rs1547
rs1547
MKKS
2 0.925 0.080 20 10405411 missense variant G/A snv 0.14 0.14 0.010 1.000 1 2009 2009
dbSNP: rs6133922
rs6133922
MKKS
1 1.000 0.040 20 10420425 intron variant A/G snv 6.4E-02 0.010 1.000 1 2009 2009
dbSNP: rs4925
rs4925
GSTO1
28 0.677 0.560 10 104263031 missense variant C/A snv 0.25 0.23 0.010 1.000 1 2012 2012
dbSNP: rs6077785
rs6077785
MKKS
1 1.000 0.040 20 10430806 intron variant A/C;T snv 0.010 1.000 1 2009 2009
dbSNP: rs6108572
rs6108572
MKKS
1 1.000 0.040 20 10432111 intron variant A/T snv 0.52 0.010 1.000 1 2009 2009
dbSNP: rs6995374
rs6995374 		1 1.000 0.040 8 10468602 intergenic variant C/G snv 0.22 0.010 1.000 1 2010 2010
dbSNP: rs9282541
rs9282541
ABCA1
13 0.790 0.160 9 104858554 missense variant G/A snv 1.3E-02 4.4E-03 0.020 0.500 2 2008 2015
dbSNP: rs12686004
rs12686004
ABCA1
6 1.000 0.040 9 104891145 intron variant G/A snv 9.1E-02 0.700 1.000 1 2018 2018
dbSNP: rs3905000
rs3905000
ABCA1
5 0.925 0.080 9 104894789 intron variant G/A snv 0.14 0.700 1.000 1 2018 2018
dbSNP: rs1883025
rs1883025
ABCA1
13 0.807 0.120 9 104902020 intron variant C/T snv 0.28 0.800 1.000 1 2012 2012