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: rs10811474
rs10811474 		11 0.742 0.240 9 21114238 intergenic variant A/G snv 0.44 0.010 1.000 1 2014 2014
dbSNP: rs1126667
rs1126667
ALOX12 ; ALOX12-AS1
8 0.776 0.280 17 6999441 missense variant A/G snv 0.60 0.62 0.010 1.000 1 2007 2007
dbSNP: rs1136410
rs1136410
PARP1
70 0.559 0.760 1 226367601 missense variant A/G snv 0.21 0.15 0.010 1.000 1 2004 2004
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 2017 2017
dbSNP: rs11752942
rs11752942
LINC00951 ; TDRG1
3 0.882 0.080 6 40354019 intron variant A/G snv 0.46 0.010 1.000 1 2013 2013
dbSNP: rs12188136
rs12188136
LINC01411
1 1.000 0.080 5 174407635 intron variant A/G snv 0.30 0.010 < 0.001 1 2019 2019
dbSNP: rs13016963
rs13016963
FLACC1
5 0.851 0.080 2 201298088 intron variant A/G snv 0.59 0.700 1.000 1 2014 2014
dbSNP: rs13182402
rs13182402
ALDH7A1
4 0.925 0.160 5 126582456 intron variant A/G snv 0.15 0.010 1.000 1 2014 2014
dbSNP: rs16944
rs16944
IL1B
92 0.531 0.920 2 112837290 upstream gene variant A/G snv 0.57 0.010 1.000 1 2013 2013
dbSNP: rs17576
rs17576
MMP9
73 0.557 0.760 20 46011586 missense variant A/G snv 0.39 0.36 0.010 1.000 1 2008 2008
dbSNP: rs1800682
rs1800682
ACTA2 ; FAS
32 0.637 0.440 10 88990206 non coding transcript exon variant A/G snv 0.54 0.010 1.000 1 2011 2011
dbSNP: rs1801394
rs1801394
MTRR ; FASTKD3
101 0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45 0.010 1.000 1 2003 2003
dbSNP: rs1801426
rs1801426
BRCA2
3 0.882 0.120 13 32398747 missense variant A/G snv 2.3E-02 3.8E-02 0.010 1.000 1 2010 2010
dbSNP: rs1883965
rs1883965
MTOR
8 0.807 0.160 1 11262099 intron variant A/G snv 0.63 0.010 1.000 1 2013 2013
dbSNP: rs1886302
rs1886302
PADI4
1 1.000 0.080 1 17308901 intron variant A/G snv 0.36 0.010 1.000 1 2017 2017
dbSNP: rs2005618
rs2005618
MBD4
2 0.925 0.200 3 129432824 intron variant A/G snv 0.23 0.010 < 0.001 1 2015 2015
dbSNP: rs2070999
rs2070999
NQO2 ; NQO2-AS1
1 1.000 0.080 6 2999495 non coding transcript exon variant A/G snv 0.70 0.010 < 0.001 1 2014 2014
dbSNP: rs2396092
rs2396092
CUL3
1 1.000 0.080 2 224470573 3 prime UTR variant A/G snv 0.18 0.010 1.000 1 2018 2018
dbSNP: rs2494752
rs2494752
AKT1
10 0.790 0.120 14 104797271 upstream gene variant A/G snv 0.85 0.010 1.000 1 2016 2016
dbSNP: rs26865
rs26865
MLST8
2 0.925 0.160 16 2203772 upstream gene variant A/G snv 0.41 0.010 1.000 1 2013 2013
dbSNP: rs3219218
rs3219218
UNG
4 0.851 0.120 12 109100430 intron variant A/G snv 1.9E-02 0.010 < 0.001 1 2014 2014
dbSNP: rs3742330
rs3742330
DICER1
24 0.662 0.640 14 95087025 3 prime UTR variant A/G snv 8.7E-02 0.010 1.000 1 2018 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 0.010 1.000 1 2016 2016
dbSNP: rs3787016
rs3787016
POLR2E
24 0.677 0.280 19 1090804 intron variant A/G snv 0.78 0.010 1.000 1 2015 2015
dbSNP: rs3804329
rs3804329
ATG5
2 1.000 0.080 6 106238552 intron variant A/G snv 0.15 0.010 1.000 1 2017 2017