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 0.700 1.000 1 2016 2016
dbSNP: rs2736100
rs2736100
TERT
83 0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52 0.700 1.000 1 2010 2010
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 2009 2009
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: rs3184504
rs3184504
ATXN2 ; SH2B3
92 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.800 1.000 3 2009 2019
dbSNP: rs653178
rs653178
ATXN2
41 0.672 0.600 12 111569952 intron variant C/T snv 0.67 0.700 1.000 1 2009 2009
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: rs13107325
rs13107325
SLC39A8
34 0.776 0.520 4 102267552 missense variant C/A;T snv 4.0E-06; 4.5E-02 0.700 1.000 1 2019 2019
dbSNP: rs7679673
rs7679673 		28 0.677 0.440 4 105140377 intron variant C/A snv 0.50 0.700 1.000 1 2019 2019
dbSNP: rs833070
rs833070
VEGFA
11 0.776 0.440 6 43774889 non coding transcript exon variant T/C snv 0.58 0.700 1.000 1 2016 2016
dbSNP: rs780094
rs780094
GCKR
62 0.658 0.400 2 27518370 intron variant T/C snv 0.67 0.700 1.000 1 2016 2016
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 1 2019 2019
dbSNP: rs579459
rs579459 		28 0.752 0.320 9 133278724 upstream gene variant C/T snv 0.81 0.700 1.000 2 2012 2017
dbSNP: rs102275
rs102275
TMEM258
18 0.827 0.320 11 61790331 non coding transcript exon variant T/C snv 0.47 0.700 1.000 1 2019 2019
dbSNP: rs10774625
rs10774625
ATXN2
13 0.763 0.320 12 111472415 intron variant A/G snv 0.66 0.700 1.000 1 2009 2009
dbSNP: rs11066188
rs11066188
HECTD4
7 0.851 0.320 12 112172910 intron variant G/A;C snv 0.30; 4.1E-06 0.700 1.000 1 2009 2009
dbSNP: rs9399137
rs9399137
HBS1L
13 0.851 0.320 6 135097880 intron variant T/C snv 0.20 0.700 1.000 1 2009 2009
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: rs9272535
rs9272535
HLA-DQA1 ; HLA-DQA2 ; LOC107986589
7 0.827 0.280 6 32638979 synonymous variant G/A snv 3.0E-05 1.8E-03 0.700 1.000 1 2016 2016
dbSNP: rs17696736
rs17696736
NAA25
18 0.827 0.240 12 112049014 intron variant A/G snv 0.30 0.700 1.000 1 2009 2009
dbSNP: rs2067079
rs2067079
SNORD81 ; SNORD79 ; SNORD80 ; SNORD47 ; SNORD44 ; GAS5 ; SNORD77 ; SNORD78 ; SNORA103
7 0.807 0.240 1 173866073 non coding transcript exon variant C/T snv 0.22 0.18 0.700 1.000 1 2019 2019
dbSNP: rs334
rs334
HBB
35 0.724 0.240 11 5227002 missense variant T/A;C;G snv 3.5E-03 0.700 1.000 1 2019 2019
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: 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 3 2013 2017
dbSNP: rs495828
rs495828 		24 0.827 0.200 9 133279294 upstream gene variant T/G snv 0.81 0.700 1.000 2 2010 2017