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: rs1800562
rs1800562
HFE ; LOC108783645
262 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.800 1.000 3 2010 2013
dbSNP: rs1799945
rs1799945
HFE ; LOC108783645
226 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.700 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 0.700 1.000 1 2017 2017
dbSNP: rs738409
rs738409
PNPLA3
88 0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22 0.700 1.000 1 2019 2019
dbSNP: rs2736100
rs2736100
TERT
83 0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52 0.700 1.000 2 2016 2017
dbSNP: rs1229984
rs1229984
ADH1B
83 0.570 0.560 4 99318162 missense variant T/C;G snv 0.90 0.700 1.000 1 2019 2019
dbSNP: rs7412
rs7412
APOE
47 0.641 0.640 19 44908822 missense variant C/T snv 6.2E-02 7.9E-02 0.700 1.000 1 2019 2019
dbSNP: rs4149056
rs4149056
SLCO1B1
45 0.633 0.480 12 21178615 missense variant T/C snv 0.13 0.12 0.700 1.000 1 2019 2019
dbSNP: rs855791
rs855791
TMPRSS6
38 0.701 0.400 22 37066896 missense variant A/G;T snv 0.57; 4.0E-06 0.800 1.000 7 2010 2018
dbSNP: rs78378222
rs78378222
TP53
37 0.662 0.360 17 7668434 3 prime UTR variant T/G snv 8.3E-03 0.700 1.000 2 2016 2019
dbSNP: rs1047891
rs1047891
CPS1
34 0.827 0.200 2 210675783 missense variant C/A snv 0.30 0.33 0.700 1.000 3 2016 2019
dbSNP: rs4939827
rs4939827
SMAD7
25 0.708 0.160 18 48927093 intron variant T/A;C snv 0.700 1.000 1 2019 2019
dbSNP: rs79105258
rs79105258
CUX2
24 12 111280427 intron variant C/A;T snv 0.700 1.000 1 2018 2018
dbSNP: rs597808
rs597808
ATXN2
19 0.742 0.200 12 111535554 intron variant A/G snv 0.67 0.700 1.000 1 2019 2019
dbSNP: rs2072671
rs2072671
CDA
16 0.752 0.280 1 20589208 missense variant A/C snv 0.28 0.25 0.700 1.000 1 2019 2019
dbSNP: rs3747093
rs3747093
YDJC
16 0.732 0.200 22 21630090 upstream gene variant G/A snv 0.32 0.700 1.000 1 2018 2018
dbSNP: rs1050828
rs1050828
G6PD
15 0.790 0.200 X 154536002 missense variant C/T snv 9.1E-03 3.6E-02 0.700 1.000 2 2013 2017
dbSNP: rs198851
rs198851
H4C3
15 6 26104404 downstream gene variant T/A;C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs7705526
rs7705526
TERT
15 0.776 0.240 5 1285859 intron variant C/A;T snv 0.700 1.000 1 2019 2019
dbSNP: rs7775698
rs7775698
HBS1L
14 1.000 0.080 6 135097497 intron variant C/T snv 6.9E-02 0.800 1.000 5 2009 2013
dbSNP: rs13331259
rs13331259
FAM234A
14 16 249924 intron variant A/G snv 3.0E-02 0.700 1.000 2 2019 2019
dbSNP: rs4820268
rs4820268
TMPRSS6
14 0.851 0.160 22 37073551 missense variant G/A;C snv 0.53; 4.0E-06 0.800 1.000 2 2009 2012
dbSNP: rs7385804
rs7385804
TFR2
14 0.851 0.120 7 100638347 intron variant C/A snv 0.65 0.700 1.000 1 2016 2016
dbSNP: rs7776054
rs7776054
HBS1L
13 6 135097778 intron variant A/G snv 0.24 0.800 1.000 3 2009 2018
dbSNP: rs28601761
rs28601761 		13 1.000 0.040 8 125487789 intron variant C/G snv 0.37 0.700 1.000 2 2016 2019