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: 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: rs121912745
rs121912745
SLC4A1
9 0.807 0.200 17 44255708 missense variant G/A;T snv 0.700 0
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: rs12979860
rs12979860
IFNL4
84 0.547 0.520 19 39248147 intron variant C/T snv 0.39 0.100 1.000 20 2010 2017
dbSNP: rs8099917
rs8099917 		60 0.581 0.600 19 39252525 upstream gene variant T/G snv 0.16 0.100 0.933 15 2011 2019
dbSNP: rs738409
rs738409
PNPLA3
88 0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22 0.100 1.000 11 2011 2019
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: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.020 1.000 2 2005 2011
dbSNP: rs1799945
rs1799945
HFE ; LOC108783645
226 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.020 1.000 2 2005 2012
dbSNP: rs368234815
rs368234815
IFNL4
15 0.742 0.280 19 39248514 frameshift variant TT/G;T delins 0.020 1.000 2 2016 2016
dbSNP: rs4273729
rs4273729 		5 0.851 0.240 6 32710820 upstream gene variant C/A;G;T snv 0.020 1.000 2 2017 2017
dbSNP: rs58542926
rs58542926
TM6SF2
42 0.630 0.440 19 19268740 missense variant C/T snv 6.5E-02 5.8E-02 0.020 1.000 2 2015 2016
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: rs10741657
rs10741657
CYP2R1
34 0.637 0.520 11 14893332 upstream gene variant A/G snv 0.65 0.010 1.000 1 2016 2016
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: 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: rs1127354
rs1127354
ITPA
26 0.667 0.400 20 3213196 missense variant C/A;G snv 7.5E-02 0.010 1.000 1 2019 2019
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: rs12075
rs12075
ACKR1 ; CADM3-AS1
22 0.724 0.240 1 159205564 missense variant G/A snv 0.51 0.66 0.010 1.000 1 2019 2019
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: rs12980275
rs12980275 		23 0.701 0.360 19 39241143 upstream gene variant A/G snv 0.36 0.010 1.000 1 2017 2017
dbSNP: rs12987960
rs12987960
INPP5D
1 1.000 0.040 2 233199308 intron variant A/G snv 0.010 1.000 1 2011 2011
dbSNP: rs12989760
rs12989760
SH3YL1
2 0.925 0.120 2 250470 intron variant T/C snv 0.010 1.000 1 2016 2016