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: 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: rs10065172
rs10065172
IRGM
8 0.790 0.200 5 150848436 synonymous variant C/T snv 0.17 0.21 0.040 0.750 4 2011 2017
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: rs1024611
rs1024611 		63 0.568 0.800 17 34252769 upstream gene variant A/G snv 0.28 0.010 1.000 1 2015 2015
dbSNP: rs1041983
rs1041983
NAT2
15 0.732 0.240 8 18400285 synonymous variant C/T snv 0.34 0.36 0.010 1.000 1 2016 2016
dbSNP: rs10421768
rs10421768
HAMP
6 0.807 0.120 19 35281996 intron variant A/G snv 0.21 0.010 1.000 1 2017 2017
dbSNP: rs1042713
rs1042713
ADRB2
63 0.576 0.800 5 148826877 missense variant G/A snv 0.42 0.43 0.010 1.000 1 2017 2017
dbSNP: rs1042714
rs1042714
ADRB2
54 0.597 0.640 5 148826910 stop gained G/C;T snv 0.68 0.010 1.000 1 2017 2017
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: rs1045642
rs1045642
ABCB1
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 1.000 1 2015 2015
dbSNP: rs10490571
rs10490571
IL1R1
5 0.827 0.320 2 102100877 intron variant C/T snv 0.29 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: rs10514611
rs10514611
IRF8
2 0.925 0.080 16 85921636 3 prime UTR variant C/T snv 0.23 0.010 1.000 1 2012 2012
dbSNP: rs1052632
rs1052632
MR1
2 0.925 0.080 1 181051094 non coding transcript exon variant G/A;C snv 0.010 1.000 1 2017 2017
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: rs1061624
rs1061624
TNFRSF1B
8 0.776 0.320 1 12207208 3 prime UTR variant A/G snv 0.48 0.010 1.000 1 2011 2011
dbSNP: rs10735810
rs10735810
VDR
26 0.662 0.640 12 47879112 start lost A/C;G;T snv 0.010 1.000 1 2013 2013
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: rs10754558
rs10754558
NLRP3
20 0.695 0.480 1 247448734 3 prime UTR variant G/C;T snv 0.010 1.000 1 2018 2018
dbSNP: rs10766197
rs10766197
CYP2R1
6 0.807 0.240 11 14900334 upstream gene variant G/A;C snv 0.010 1.000 1 2016 2016
dbSNP: rs10774671
rs10774671
OAS1
14 0.732 0.480 12 112919388 splice acceptor variant G/A;C snv 0.67 0.010 1.000 1 2018 2018