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: rs2057178
rs2057178 		1 1.000 0.040 11 32342641 intron variant G/A snv 0.18 0.830 0.800 5 2012 2016
dbSNP: rs10956514
rs10956514
ASAP1
1 1.000 0.040 8 130240512 intron variant A/G snv 0.37 0.040 0.250 4 2015 2018
dbSNP: rs4733781
rs4733781
ASAP1
1 1.000 0.040 8 130284521 intron variant A/C snv 0.29 0.740 1.000 4 2015 2019
dbSNP: rs7832767
rs7832767
SFRP1
1 1.000 0.040 8 41302340 intron variant C/T snv 1.0E-01 0.030 1.000 3 2014 2016
dbSNP: rs11556887
rs11556887
SP110 ; SP140
1 1.000 0.040 2 230212961 missense variant G/A snv 0.10 7.4E-02 0.020 1.000 2 2017 2018
dbSNP: rs2280788
rs2280788
CCL5 ; LOC105371744
2 0.925 0.040 17 35880401 5 prime UTR variant G/C snv 2.0E-02 0.020 1.000 2 2011 2013
dbSNP: rs4736958
rs4736958
SFRP1
1 1.000 0.040 8 41261978 3 prime UTR variant T/C snv 3.6E-02 0.020 1.000 2 2016 2016
dbSNP: rs5743604
rs5743604
TLR1
3 0.925 0.040 4 38799664 intron variant A/G snv 0.36 0.020 1.000 2 2018 2019
dbSNP: rs6695096
rs6695096
MASP2
1 1.000 0.040 1 11034982 intron variant C/A;T snv 0.020 1.000 2 2014 2015
dbSNP: rs10051924
rs10051924
IRGM
1 1.000 0.040 5 150847077 5 prime UTR variant T/C snv 0.21 0.010 1.000 1 2016 2016
dbSNP: rs1017281
rs1017281
ASAP1
1 1.000 0.040 8 130234967 intron variant G/A snv 0.37 0.010 1.000 1 2018 2018
dbSNP: rs1045481
rs1045481
GEMIN4
1 1.000 0.040 17 744917 missense variant G/A;C snv 0.20 0.010 1.000 1 2018 2018
dbSNP: rs10500804
rs10500804
CYP2R1
2 0.925 0.040 11 14888727 intron variant T/G snv 0.35 0.010 1.000 1 2016 2016
dbSNP: rs10507172
rs10507172
HSP90B1 ; C12orf73
1 1.000 0.040 12 103949490 intron variant G/A snv 7.2E-02 0.010 1.000 1 2018 2018
dbSNP: rs10507173
rs10507173
HSP90B1 ; C12orf73
1 1.000 0.040 12 103950058 intron variant A/G snv 6.3E-02 0.010 1.000 1 2018 2018
dbSNP: rs1052677
rs1052677
POLD1 ; NR1H2
1 1.000 0.040 19 50382924 3 prime UTR variant C/G;T snv 0.45 0.010 1.000 1 2014 2014
dbSNP: rs1055229
rs1055229
LINC01857
2 1.000 0.040 2 207666959 non coding transcript exon variant C/T snv 0.26 0.010 1.000 1 2020 2020
dbSNP: rs1059225
rs1059225
SFTPA1
1 1.000 0.040 10 79615230 3 prime UTR variant T/C snv 0.47 0.010 1.000 1 2016 2016
dbSNP: rs1075309
rs1075309 		1 1.000 0.040 2 5113465 intergenic variant C/T snv 0.20 0.800 1.000 1 2014 2014
dbSNP: rs10911362
rs10911362
NCF2 ; SMG7
1 1.000 0.040 1 183579857 intron variant A/G snv 0.12 0.010 1.000 1 2020 2020
dbSNP: rs1101998
rs1101998
IFI16
1 1.000 0.040 1 159029494 intron variant C/T snv 0.65 0.010 1.000 1 2020 2020
dbSNP: rs11031728
rs11031728 		1 1.000 0.040 11 32342070 intron variant C/G snv 0.18 0.700 1.000 1 2012 2012
dbSNP: rs11031731
rs11031731 		3 0.925 0.040 11 32343884 upstream gene variant G/A snv 0.18 0.700 1.000 1 2012 2012
dbSNP: rs11040
rs11040
TENT5A
1 1.000 0.040 6 81752132 missense variant C/A;G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs11117415
rs11117415
IRF8 ; MIR6774
1 1.000 0.040 16 85917080 intron variant A/G snv 0.12 0.010 1.000 1 2012 2012