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: rs72613567
rs72613567
HSD17B13
14 0.742 0.320 4 87310240 splice donor variant -/A delins 0.22 0.030 1.000 3 2019 2020
dbSNP: rs738409
rs738409
PNPLA3
88 0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22 0.030 1.000 3 2015 2018
dbSNP: rs12979860
rs12979860
IFNL4
84 0.547 0.520 19 39248147 intron variant C/T snv 0.39 0.020 1.000 2 2014 2015
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 2019 2019
dbSNP: rs11127
rs11127
GNLY
3 0.925 0.160 2 85697606 missense variant C/T snv 0.39 0.31 0.010 < 0.001 1 2015 2015
dbSNP: rs1799945
rs1799945
HFE ; LOC108783645
226 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.010 1.000 1 2017 2017
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
262 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.010 1.000 1 2004 2004
dbSNP: rs1800730
rs1800730
HFE ; LOC108783645
32 0.649 0.480 6 26090957 missense variant A/T snv 1.0E-02 1.0E-02 0.010 1.000 1 2007 2007
dbSNP: rs1866139
rs1866139
GNLY
2 1.000 0.080 2 85694266 intron variant G/C snv 0.51 0.010 < 0.001 1 2015 2015
dbSNP: rs2148356
rs2148356 		2 1.000 0.080 9 7395038 intergenic variant G/A;C snv 0.010 1.000 1 2012 2012
dbSNP: rs28934571
rs28934571
TP53
31 0.645 0.360 17 7674216 missense variant C/A;G snv 0.010 1.000 1 2012 2012
dbSNP: rs699947
rs699947
VEGFA
67 0.570 0.680 6 43768652 upstream gene variant A/C;T snv 0.010 1.000 1 2017 2017
dbSNP: rs7959378
rs7959378
TFCP2
2 1.000 0.080 12 51173447 upstream gene variant A/C snv 0.41 0.010 1.000 1 2017 2017
dbSNP: rs9275572
rs9275572 		15 0.724 0.360 6 32711222 upstream gene variant A/G;T snv 0.010 < 0.001 1 2015 2015