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: 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 2 2018 2018
dbSNP: rs1260326
rs1260326
GCKR
81 0.645 0.600 2 27508073 missense variant T/C;G snv 0.63; 4.0E-06 0.68 0.800 1.000 6 2009 2019
dbSNP: rs780094
rs780094
GCKR
62 0.658 0.400 2 27518370 intron variant T/C snv 0.67 0.800 1.000 2 2009 2015
dbSNP: rs2231142
rs2231142
ABCG2
56 0.583 0.680 4 88131171 missense variant G/C;T snv 4.0E-06; 0.12 0.800 1.000 14 2008 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: rs653178
rs653178
ATXN2
41 0.672 0.600 12 111569952 intron variant C/T snv 0.67 0.700 1.000 1 2013 2013
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: rs1047891
rs1047891
CPS1
34 0.827 0.200 2 210675783 missense variant C/A snv 0.30 0.33 0.700 1.000 1 2019 2019
dbSNP: rs8050136
rs8050136
FTO
32 0.716 0.560 16 53782363 intron variant C/A snv 0.40 0.700 1.000 1 2019 2019
dbSNP: rs780093
rs780093
GCKR
30 0.763 0.240 2 27519736 intron variant T/C snv 0.68 0.800 1.000 2 2009 2010
dbSNP: rs11066280
rs11066280
HECTD4
27 0.742 0.280 12 112379979 intron variant T/A snv 7.0E-03 0.700 1.000 1 2018 2018
dbSNP: rs79105258
rs79105258
CUX2
24 12 111280427 intron variant C/A;T snv 0.700 1.000 3 2018 2019
dbSNP: rs4072037
rs4072037
MUC1
22 0.732 0.240 1 155192276 splice acceptor variant C/A;T snv 0.59 0.700 1.000 2 2018 2019
dbSNP: rs3782886
rs3782886
BRAP
22 0.724 0.480 12 111672685 synonymous variant T/C snv 1.9E-02 5.9E-03 0.700 1.000 1 2018 2018
dbSNP: rs1169288
rs1169288
HNF1A ; HNF1A-AS1
21 0.776 0.160 12 120978847 missense variant A/C;T snv 0.35 0.700 1.000 1 2019 2019
dbSNP: rs1800961
rs1800961
HNF4A
21 0.851 0.160 20 44413724 missense variant C/T snv 3.1E-02 2.5E-02 0.700 1.000 1 2019 2019
dbSNP: rs17696736
rs17696736
NAA25
18 0.827 0.240 12 112049014 intron variant A/G snv 0.30 0.700 1.000 1 2019 2019
dbSNP: rs198851
rs198851
H4C3
15 6 26104404 downstream gene variant T/A;C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs174594
rs174594
FADS2
14 0.776 0.160 11 61852357 intron variant C/A;T snv 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 2019 2019
dbSNP: rs1260333
rs1260333 		12 0.882 0.160 2 27525757 downstream gene variant A/G snv 0.58 0.700 1.000 1 2009 2009
dbSNP: rs17145738
rs17145738
TBL2
11 0.851 0.200 7 73568544 3 prime UTR variant C/T snv 0.11 0.700 1.000 1 2019 2019
dbSNP: rs9895661
rs9895661
BCAS3
10 0.882 0.200 17 61379228 non coding transcript exon variant C/T snv 0.69 0.700 1.000 3 2018 2019
dbSNP: rs10857147
rs10857147 		9 1.000 0.040 4 80259918 intergenic variant A/T snv 0.25 0.700 1.000 3 2018 2019
dbSNP: rs17050272
rs17050272
LOC105373585
9 0.882 0.120 2 120548864 upstream gene variant G/A snv 0.33 0.700 1.000 3 2013 2019