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: rs738409
rs738409
PNPLA3
88 0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22 0.100 1.000 14 2011 2019
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
262 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.040 1.000 4 1999 2003
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 1999 2001
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 2018 2019
dbSNP: rs10401969
rs10401969
SUGP1
25 0.776 0.240 19 19296909 intron variant T/C snv 0.10 0.010 1.000 1 2019 2019
dbSNP: rs10433879
rs10433879
HSD17B13
1 4 87309988 intron variant G/C snv 0.20 0.010 1.000 1 2019 2019
dbSNP: rs1131445
rs1131445
IL16 ; STARD5
16 0.724 0.440 15 81309441 3 prime UTR variant T/A;C snv 0.010 1.000 1 2018 2018
dbSNP: rs11554495
rs11554495
KRT8
19 0.701 0.240 12 52904798 missense variant C/A snv 4.9E-03 5.4E-03 0.010 1.000 1 2006 2006
dbSNP: rs1368439
rs1368439
IL12B ; LOC105377683
2 1.000 0.080 5 159315006 3 prime UTR variant G/T snv 0.87 0.010 1.000 1 2018 2018
dbSNP: rs1800471
rs1800471
TGFB1
48 0.597 0.840 19 41352971 missense variant C/G;T snv 5.6E-02 0.010 1.000 1 2008 2008
dbSNP: rs2281135
rs2281135
PNPLA3
10 0.851 0.160 22 43936690 intron variant G/A snv 0.19 0.010 1.000 1 2019 2019
dbSNP: rs231775
rs231775
CTLA4
115 0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs3917328
rs3917328
IL1R1
2 1.000 0.080 2 102178081 3 prime UTR variant C/G;T snv 5.1E-02 0.010 1.000 1 2018 2018
dbSNP: rs4648143
rs4648143
NFKB1 ; LOC105377347
2 1.000 0.080 4 102616617 3 prime UTR variant G/A;T snv 5.0E-03; 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs626283
rs626283
MBOAT7 ; TMC4 ; LOC112268246
7 0.827 0.160 19 54173307 upstream gene variant C/G snv 0.61 0.010 1.000 1 2018 2018
dbSNP: rs671
rs671
ALDH2
116 0.529 0.840 12 111803962 missense variant G/A snv 1.9E-02 5.8E-03 0.010 1.000 1 2018 2018
dbSNP: rs72613567
rs72613567
HSD17B13
14 0.742 0.320 4 87310240 splice donor variant -/A delins 0.22 0.010 1.000 1 2019 2019
dbSNP: rs774062108
rs774062108
NFKB1 ; LOC105377347
3 0.925 0.240 4 102607651 splice region variant T/G snv 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs778338788
rs778338788
IL16
2 1.000 0.080 15 81300440 synonymous variant T/C snv 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs9273349
rs9273349
HLA-DQB1-AS1
6 0.827 0.200 6 32658092 upstream gene variant T/C;G snv 0.010 1.000 1 2019 2019