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: rs6540341
rs6540341
MAGEA11
2 0.925 0.120 X 149714188 non coding transcript exon variant G/A snv 0.010 1.000 1 2019 2019
dbSNP: rs6641352
rs6641352
MAGEA11
2 0.925 0.120 X 149711150 intron variant A/G snv 0.010 1.000 1 2019 2019
dbSNP: rs6713088
rs6713088
ACYP2
9 0.763 0.200 2 54118332 intron variant C/G snv 0.48 0.010 1.000 1 2019 2019
dbSNP: rs6721961
rs6721961
NFE2L2
24 0.672 0.520 2 177265309 intron variant T/C;G snv 0.89 0.010 1.000 1 2019 2019
dbSNP: rs750380279
rs750380279
SDHA ; CCDC127
6 0.851 0.200 5 218357 start lost T/A;C;G snv 8.7E-06; 8.7E-06 0.010 1.000 1 2019 2019
dbSNP: rs756787389
rs756787389
FLCN
2 0.925 0.120 17 17219129 missense variant C/T snv 1.2E-05 4.9E-05 0.010 1.000 1 2019 2019
dbSNP: rs7859384
rs7859384 		6 0.882 0.120 9 79507370 intron variant A/C;G snv 0.010 1.000 1 2019 2019
dbSNP: rs78971134
rs78971134 		1 1.000 0.120 12 107258753 intergenic variant A/G snv 7.7E-02 0.700 1.000 1 2019 2019
dbSNP: rs843711
rs843711
ACYP2
7 0.790 0.200 2 54251980 intron variant C/T snv 0.41 0.010 1.000 1 2019 2019
dbSNP: rs879255658
rs879255658
FLCN
3 0.882 0.160 17 17228135 start lost C/G snv 0.010 1.000 1 2019 2019
dbSNP: rs699947
rs699947
VEGFA
67 0.570 0.680 6 43768652 upstream gene variant A/C;T snv 0.040 0.750 4 2017 2018
dbSNP: rs11549465
rs11549465
HIF1A ; HIF1A-AS3
55 0.597 0.680 14 61740839 missense variant C/T snv 8.8E-02 7.7E-02 0.030 1.000 3 2008 2018
dbSNP: rs11549467
rs11549467
HIF1A ; HIF1A-AS3
30 0.653 0.400 14 61740857 missense variant G/A snv 8.9E-03 7.0E-03 0.030 1.000 3 2008 2018
dbSNP: rs11614913
rs11614913
HOXC6 ; MIR196A2
111 0.512 0.760 12 53991815 mature miRNA variant C/T snv 0.39 0.34 0.030 1.000 3 2014 2018
dbSNP: rs3746444
rs3746444
MYH7B ; MIR499A ; MIR499B ; LOC107985393
105 0.514 0.760 20 34990448 mature miRNA variant A/G snv 0.20 0.19 0.030 1.000 3 2014 2018
dbSNP: rs1137101
rs1137101
LEPR
77 0.554 0.760 1 65592830 missense variant A/G snv 0.51 0.50 0.010 1.000 1 2018 2018
dbSNP: rs1154454
rs1154454
ADH7
2 0.925 0.120 4 99417185 intron variant A/G snv 0.22 0.010 < 0.001 1 2018 2018
dbSNP: rs1544410
rs1544410
VDR
78 0.542 0.760 12 47846052 intron variant C/A;G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs156697
rs156697
GSTO2
25 0.672 0.560 10 104279427 missense variant A/G;T snv 0.35 0.010 1.000 1 2018 2018
dbSNP: rs182052
rs182052
ADIPOQ
19 0.701 0.440 3 186842993 intron variant G/A snv 0.38 0.010 1.000 1 2018 2018
dbSNP: rs2050462
rs2050462
CSF1
2 0.925 0.120 1 109930334 3 prime UTR variant T/A;G snv 0.010 1.000 1 2018 2018
dbSNP: rs2228570
rs2228570
VDR
99 0.521 0.760 12 47879112 start lost A/C;G;T snv 0.63 0.010 1.000 1 2018 2018
dbSNP: rs2297235
rs2297235
GSTO2
11 0.752 0.320 10 104274733 5 prime UTR variant A/G snv 0.22 0.010 1.000 1 2018 2018
dbSNP: rs2499707
rs2499707
GRM4
2 0.925 0.120 6 34085889 intron variant T/A;C snv 0.010 1.000 1 2018 2018
dbSNP: rs333951
rs333951
CSF1
2 0.925 0.120 1 109909068 upstream gene variant T/C snv 0.74 0.010 < 0.001 1 2018 2018