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: rs34911341
rs34911341
GHRL ; GHRLOS
5 0.882 0.200 3 10289835 missense variant C/T snv 7.0E-03 7.3E-03 0.710 1.000 1 2002 2002
dbSNP: rs26802
rs26802
GHRL ; GHRLOS
3 0.925 0.160 3 10290681 intron variant T/G snv 0.31 0.010 1.000 1 2015 2015
dbSNP: rs26312
rs26312
GHRL ; GHRLOS
2 0.925 0.080 3 10291174 5 prime UTR variant G/A snv 0.16 0.010 1.000 1 2013 2013
dbSNP: rs3759579
rs3759579
MARK3
2 0.925 0.120 14 103384935 upstream gene variant A/G snv 0.55 0.010 1.000 1 2018 2018
dbSNP: rs861539
rs861539
KLC1 ; XRCC3
104 0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30 0.010 1.000 1 2018 2018
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 2008 2008
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 2005 2005
dbSNP: rs74315394
rs74315394
MKKS
4 0.851 0.440 20 10412791 missense variant C/A snv 5.2E-03 5.0E-03 0.010 1.000 1 2005 2005
dbSNP: rs4149313
rs4149313
ABCA1
9 0.763 0.240 9 104824472 missense variant T/C snv 0.020 1.000 2 2016 2016
dbSNP: rs2066714
rs2066714
ABCA1
13 0.742 0.240 9 104824472 missense variant T/C snv 0.21 0.25 0.010 1.000 1 2015 2015
dbSNP: rs2515602
rs2515602
ABCA1
1 1.000 0.080 9 104837887 intron variant A/G snv 0.47 0.020 1.000 2 2016 2016
dbSNP: rs9282541
rs9282541
ABCA1
13 0.790 0.160 9 104858554 missense variant G/A snv 1.3E-02 4.4E-03 0.040 1.000 4 2007 2017
dbSNP: rs2230806
rs2230806
ABCA1
24 0.689 0.280 9 104858586 missense variant C/T snv 0.32 0.39 0.040 1.000 4 2007 2016
dbSNP: rs10953454
rs10953454
LHFPL3
1 1.000 0.080 7 104863366 intron variant G/A snv 0.12 0.800 1.000 1 2011 2011
dbSNP: rs2275542
rs2275542
ABCA1
1 1.000 0.080 9 104882799 intron variant C/T snv 0.28 0.020 1.000 2 2016 2016
dbSNP: rs3890182
rs3890182
ABCA1
5 0.925 0.120 9 104885374 intron variant G/A;T snv 0.010 1.000 1 2016 2016
dbSNP: rs1800976
rs1800976
ABCA1 ; LOC105376196
2 1.000 0.080 9 104928428 intron variant C/G snv 0.47 0.020 1.000 2 2016 2016
dbSNP: rs2272495
rs2272495
APPL2
1 1.000 0.080 12 105190099 missense variant G/A snv 0.21 0.18 0.010 1.000 1 2012 2012
dbSNP: rs1107756
rs1107756
APPL2 ; C12orf75
1 1.000 0.080 12 105235461 intron variant A/G snv 0.33 0.010 1.000 1 2012 2012
dbSNP: rs4730153
rs4730153
NAMPT
3 0.882 0.120 7 106263704 intron variant A/G snv 0.49 0.020 1.000 2 2008 2016
dbSNP: rs3801266
rs3801266
NAMPT
3 0.925 0.080 7 106283804 intron variant T/C snv 0.26 0.020 1.000 2 2012 2015
dbSNP: rs1319501
rs1319501
NAMPT
4 0.882 0.120 7 106285307 intron variant C/A;T snv 0.76 0.010 1.000 1 2015 2015
dbSNP: rs11977021
rs11977021 		5 0.827 0.240 7 106288069 upstream gene variant C/T snv 0.22 0.010 1.000 1 2016 2016
dbSNP: rs35669975
rs35669975 		2 0.925 0.120 13 107138053 intergenic variant C/A;G snv 0.700 1.000 1 2015 2015
dbSNP: rs1281685502
rs1281685502
ATM
1 1.000 0.080 11 108292629 missense variant A/G;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2004 2004