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: rs138880920
rs138880920
ABCA1
1 1.000 0.040 9 104826957 missense variant C/G snv 3.3E-03 1.8E-03 0.010 1.000 1 2005 2005
dbSNP: rs33918808
rs33918808
ABCA1
1 1.000 0.040 9 104817351 missense variant C/G;T snv 3.5E-02; 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs3917643
rs3917643
F3
1 1.000 0.040 1 94536311 intron variant T/C snv 3.9E-02 0.010 1.000 1 2009 2009
dbSNP: rs1144507
rs1144507
ZNF202
2 0.925 0.080 11 123729767 missense variant A/C;G;T snv 0.68 0.010 1.000 1 2006 2006
dbSNP: rs17057255
rs17057255
EPHX2
2 0.925 0.080 8 27503724 missense variant C/T snv 1.3E-02 3.4E-02 0.010 1.000 1 2010 2010
dbSNP: rs17105278
rs17105278
RAD51B
2 0.925 0.080 14 68261762 intron variant T/C snv 0.36 0.010 1.000 1 2017 2017
dbSNP: rs1740073
rs1740073 		2 1.000 0.040 6 43979661 regulatory region variant T/C snv 0.67 0.010 1.000 1 2017 2017
dbSNP: rs2293489
rs2293489
BUD23
2 0.925 0.120 7 73692949 non coding transcript exon variant C/T snv 0.26 0.010 1.000 1 2019 2019
dbSNP: rs2375981
rs2375981 		2 1.000 0.040 9 2692583 regulatory region variant C/G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs2639990
rs2639990
ZADH2
2 1.000 0.040 18 75203596 intron variant T/C snv 0.12 0.010 1.000 1 2017 2017
dbSNP: rs281860391
rs281860391
HLA-B ; HLA-C
2 0.925 0.080 6 31271690 stop gained C/T snv 0.010 < 0.001 1 2005 2005
dbSNP: rs7043199
rs7043199
VLDLR ; VLDLR-AS1
2 1.000 0.040 9 2621145 intron variant T/A snv 0.18 0.010 1.000 1 2017 2017
dbSNP: rs750249283
rs750249283
ABCG1
2 0.925 0.080 21 42296256 missense variant C/G;T snv 4.0E-06; 8.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs872129
rs872129 		2 0.925 0.080 1 203200263 intergenic variant A/G snv 0.19 0.010 1.000 1 2012 2012
dbSNP: rs884164
rs884164
PLIN4
2 0.925 0.040 19 4521613 upstream gene variant A/G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs12817819
rs12817819
ATP2B1
3 0.882 0.040 12 89645549 intron variant C/T snv 9.4E-02 0.010 1.000 1 2014 2014
dbSNP: rs4147929
rs4147929
ABCA7
3 0.882 0.120 19 1063444 intron variant A/C;G snv 0.010 1.000 1 2018 2018
dbSNP: rs4359426
rs4359426
CCL22
3 0.925 0.120 16 57358821 missense variant A/C;T snv 0.92 0.94 0.010 1.000 1 2016 2016
dbSNP: rs4782371
rs4782371
ZFPM1
3 1.000 0.040 16 88502423 intron variant T/A;G snv 0.010 1.000 1 2017 2017
dbSNP: rs10761741
rs10761741
JMJD1C
4 1.000 0.040 10 63306426 intron variant G/T snv 0.38 0.010 1.000 1 2017 2017
dbSNP: rs11234027
rs11234027
NADSYN1
5 0.882 0.080 11 71523061 intron variant G/A snv 0.24 0.010 1.000 1 2015 2015
dbSNP: rs114694170
rs114694170
MEF2C ; MEF2C-AS1
5 1.000 0.040 5 88884379 non coding transcript exon variant T/C snv 3.6E-02 0.010 1.000 1 2017 2017
dbSNP: rs567798234
rs567798234
AMPD2
5 0.851 0.120 1 109625326 missense variant C/T snv 4.1E-06 7.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs6749704
rs6749704
CCL20
5 0.827 0.240 2 227813126 intron variant T/C snv 0.24 0.010 < 0.001 1 2016 2016
dbSNP: rs2230808
rs2230808
ABCA1
6 0.827 0.240 9 104800523 missense variant T/C snv 0.71 0.60 0.010 1.000 1 2008 2008