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: rs267607117
rs267607117
TMEM67
2 0.925 0.080 8 93780747 missense variant G/T snv 0.010 1.000 1 2009 2009
dbSNP: rs267606959
rs267606959
POLG
19 0.732 0.200 15 89318986 missense variant G/A snv 2.0E-05 0.700 1.000 2 2010 2011
dbSNP: rs900837802
rs900837802
EIF2AK3
1 1.000 0.080 2 88595498 missense variant T/C snv 7.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs72613567
rs72613567
HSD17B13
14 0.742 0.320 4 87310240 splice donor variant -/A delins 0.22 0.010 < 0.001 1 2019 2019
dbSNP: rs10433937
rs10433937
HSD17B13
4 0.882 0.080 4 87308948 intron variant T/A;C;G snv 0.010 < 0.001 1 2019 2019
dbSNP: rs28934571
rs28934571
TP53
31 0.645 0.360 17 7674216 missense variant C/A;G snv 0.010 1.000 1 2015 2015
dbSNP: rs4619915
rs4619915
ART3 ; CXCL11
3 0.882 0.120 4 76034048 3 prime UTR variant A/G snv 0.61 0.010 1.000 1 2015 2015
dbSNP: rs3921
rs3921
ART3 ; CXCL10
8 0.807 0.240 4 76021790 3 prime UTR variant C/G snv 0.61 0.010 1.000 1 2015 2015
dbSNP: rs10336
rs10336
CXCL9 ; LOC101928809
4 0.851 0.240 4 76001835 3 prime UTR variant A/G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs7041
rs7041
GC
64 0.576 0.800 4 71752617 missense variant A/C;T snv 0.52; 4.0E-06 0.010 < 0.001 1 2018 2018
dbSNP: rs4588
rs4588
GC
53 0.597 0.720 4 71752606 missense variant G/A;T snv 1.6E-05; 0.25 0.010 < 0.001 1 2018 2018
dbSNP: rs12785878
rs12785878
NADSYN1
25 0.677 0.520 11 71456403 intron variant G/A;T snv 0.010 1.000 1 2017 2017
dbSNP: rs1060500764
rs1060500764
SMAD3
1 1.000 0.080 15 67181363 missense variant A/G snv 0.010 1.000 1 2016 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 2016 2016
dbSNP: rs641738
rs641738
MBOAT7 ; TMC4 ; LOC112268246
22 0.689 0.320 19 54173068 missense variant T/A;C;G snv 0.020 1.000 2 2016 2019
dbSNP: rs1050450
rs1050450
GPX1
43 0.623 0.600 3 49357401 missense variant G/A snv 0.28 0.30 0.010 1.000 1 2016 2016
dbSNP: rs781521972
rs781521972
SMAD2
1 1.000 0.080 18 47896706 synonymous variant T/A snv 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs2228570
rs2228570
VDR
99 0.521 0.760 12 47879112 start lost A/C;G;T snv 0.63 0.010 1.000 1 2019 2019
dbSNP: rs1544410
rs1544410
VDR
78 0.542 0.760 12 47846052 intron variant C/A;G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs1430059719
rs1430059719
MMP9
1 1.000 0.080 20 46012456 missense variant G/C snv 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs738409
rs738409
PNPLA3
88 0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22 0.100 0.958 24 2010 2019
dbSNP: rs1800471
rs1800471
TGFB1
48 0.597 0.840 19 41352971 missense variant C/G;T snv 5.6E-02 0.020 1.000 2 2002 2013
dbSNP: rs8099917
rs8099917 		60 0.581 0.600 19 39252525 upstream gene variant T/G snv 0.16 0.070 1.000 7 2010 2019
dbSNP: rs12979860
rs12979860
IFNL4
84 0.547 0.520 19 39248147 intron variant C/T snv 0.39 0.100 1.000 11 2010 2019
dbSNP: rs12980275
rs12980275 		23 0.701 0.360 19 39241143 upstream gene variant A/G snv 0.36 0.010 1.000 1 2014 2014