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: rs12987960
rs12987960
INPP5D
1 1.000 0.040 2 233199308 intron variant A/G snv 0.010 1.000 1 2011 2011
dbSNP: rs371708541
rs371708541
IFNL3
1 1.000 0.040 19 39244796 missense variant C/G snv 0.010 1.000 1 2012 2012
dbSNP: rs3782287
rs3782287
SCARB1
1 1.000 0.040 12 124804719 intron variant G/A snv 0.41 0.010 1.000 1 2016 2016
dbSNP: rs3810560
rs3810560
ITPA ; SLC4A11
1 1.000 0.040 20 3227173 downstream gene variant T/C snv 0.34 0.010 1.000 1 2016 2016
dbSNP: rs57626370
rs57626370
KRT8 ; MIR9898
1 1.000 0.040 12 52898806 missense variant C/T snv 1.3E-04 2.4E-04 0.010 1.000 1 2006 2006
dbSNP: rs863225461
rs863225461
SLC4A1
1 1.000 0.040 17 44253238 missense variant A/G snv 0.800 1.000 1 2005 2005
dbSNP: rs863225462
rs863225462
SLC4A1
1 1.000 0.040 17 44253228 missense variant T/C snv 0.800 1.000 1 2005 2005
dbSNP: rs863225463
rs863225463
SLC4A1
1 1.000 0.040 17 44253369 missense variant A/G snv 0.800 1.000 1 2005 2005
dbSNP: rs26312
rs26312
GHRL ; GHRLOS
2 0.925 0.080 3 10291174 5 prime UTR variant G/A snv 0.16 0.010 < 0.001 1 2018 2018
dbSNP: rs1063303
rs1063303
TRIM22 ; TRIM5
2 0.925 0.120 11 5698520 missense variant G/A;C;T snv 4.0E-06; 0.50; 1.6E-05 0.010 1.000 1 2018 2018
dbSNP: rs12186731
rs12186731
HAVCR2
2 0.925 0.120 5 157110905 intron variant C/T snv 0.11 0.010 1.000 1 2016 2016
dbSNP: rs12989760
rs12989760
SH3YL1
2 0.925 0.120 2 250470 intron variant T/C snv 0.010 1.000 1 2016 2016
dbSNP: rs13170556
rs13170556
HAVCR2
2 0.925 0.120 5 157095577 intron variant T/C snv 0.13 0.010 1.000 1 2016 2016
dbSNP: rs1439490
rs1439490 		3 0.882 0.120 22 21351147 upstream gene variant T/C snv 0.010 1.000 1 2018 2018
dbSNP: rs2645424
rs2645424
FDFT1
5 0.827 0.120 8 11826954 intron variant A/C;G snv 0.56 0.010 1.000 1 2014 2014
dbSNP: rs27647
rs27647
GHRL ; GHRLOS
2 0.925 0.120 3 10290784 5 prime UTR variant C/T snv 0.67 0.010 < 0.001 1 2018 2018
dbSNP: rs4803217
rs4803217
IFNL3
4 0.882 0.120 19 39243580 3 prime UTR variant C/A snv 0.39 0.010 < 0.001 1 2017 2017
dbSNP: rs9695310
rs9695310
DDX58
4 0.851 0.120 9 32464137 intron variant G/C snv 0.52 0.010 1.000 1 2019 2019
dbSNP: rs45562031
rs45562031
SLC4A1
2 0.925 0.120 17 44261625 missense variant C/T snv 1.0E-02 1.1E-02 0.700 0
dbSNP: rs10846744
rs10846744
SCARB1
11 0.763 0.160 12 124827879 intron variant G/C snv 0.32 0.020 1.000 2 2016 2017
dbSNP: rs10833
rs10833
IL15
10 0.776 0.160 4 141733394 3 prime UTR variant T/A;C snv 0.010 1.000 1 2017 2017
dbSNP: rs11506105
rs11506105
EGFR
4 0.851 0.160 7 55152484 intron variant A/G snv 0.59 0.010 1.000 1 2017 2017
dbSNP: rs5743312
rs5743312
TLR3
9 0.827 0.160 4 186079102 intron variant C/T snv 0.14 0.010 1.000 1 2018 2018
dbSNP: rs1126579
rs1126579
CXCR2
8 0.776 0.200 2 218136011 3 prime UTR variant T/C snv 0.62 0.010 1.000 1 2018 2018
dbSNP: rs17047200
rs17047200
TLL1
5 0.827 0.200 4 166008836 intron variant A/T snv 0.18 0.010 1.000 1 2019 2019