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: rs1263282981
rs1263282981
NR4A3 ; STX17-AS1
2 1.000 0.080 9 99828749 missense variant C/T snv 1.4E-05 0.010 1.000 1 2005 2005
dbSNP: rs776746
rs776746
CYP3A5 ; ZSCAN25
21 0.724 0.400 7 99672916 splice acceptor variant T/C snv 0.72 0.010 1.000 1 2015 2015
dbSNP: rs1229984
rs1229984
ADH1B
83 0.570 0.560 4 99318162 missense variant T/C;G snv 0.90 0.010 < 0.001 1 2014 2014
dbSNP: rs531564
rs531564
LINC00599 ; MIR124-1
27 0.672 0.480 8 9903189 non coding transcript exon variant G/C snv 0.14 0.010 1.000 1 2019 2019
dbSNP: rs2229765
rs2229765
IGF1R
7 0.807 0.280 15 98934996 synonymous variant G/A snv 0.40 0.39 0.010 1.000 1 2008 2008
dbSNP: rs1804689
rs1804689
HPS1 ; LOC101927278
2 1.000 0.080 10 98445350 5 prime UTR variant G/T snv 0.28 0.010 1.000 1 2012 2012
dbSNP: rs1406885199
rs1406885199
HPS1
2 1.000 0.080 10 98433988 missense variant C/A;T snv 6.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs360139
rs360139 		1 1.000 0.080 11 9753544 upstream gene variant A/G snv 0.62 0.700 1.000 1 2018 2018
dbSNP: rs6538697
rs6538697
LTA4H ; LOC102723340
2 1.000 0.080 12 96009832 non coding transcript exon variant T/C snv 0.13 0.010 1.000 1 2012 2012
dbSNP: rs78734480
rs78734480
NTN4
1 1.000 0.080 12 95682574 intron variant T/C snv 2.0E-02 0.700 1.000 1 2019 2019
dbSNP: rs8028726
rs8028726
LOC105370995
1 1.000 0.080 15 95588731 intergenic variant G/T snv 0.49 0.700 1.000 1 2018 2018
dbSNP: rs1524668
rs1524668
ADAM17
4 0.851 0.160 2 9557243 upstream gene variant A/C snv 0.64 0.010 1.000 1 2014 2014
dbSNP: rs12692386
rs12692386
ADAM17
5 0.827 0.160 2 9555777 5 prime UTR variant A/G snv 0.72 0.010 1.000 1 2014 2014
dbSNP: rs2281939
rs2281939
SORBS1
9 0.790 0.320 10 95414595 missense variant T/C snv 8.2E-02 0.13 0.010 1.000 1 2008 2008
dbSNP: rs7493
rs7493
PON2
24 0.677 0.440 7 95405463 missense variant G/C snv 0.27 0.27 0.030 1.000 3 2007 2017
dbSNP: rs705381
rs705381
PON1
2 1.000 0.080 7 95324637 upstream gene variant T/C snv 0.72 0.010 < 0.001 1 2013 2013
dbSNP: rs854560
rs854560
PON1
113 0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29 0.060 0.833 6 2007 2019
dbSNP: rs662
rs662
PON1
157 0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42 0.100 0.929 14 2000 2019
dbSNP: rs3742330
rs3742330
DICER1
24 0.662 0.640 14 95087025 3 prime UTR variant A/G snv 8.7E-02 0.010 1.000 1 2018 2018
dbSNP: rs17110453
rs17110453
CYP2C8
2 0.925 0.080 10 95069772 upstream gene variant A/C snv 0.11 0.010 1.000 1 2015 2015
dbSNP: rs1324214
rs1324214
F3
3 0.925 0.120 1 94531732 intron variant G/A snv 0.21 0.010 1.000 1 2009 2009
dbSNP: rs3917639
rs3917639 		2 0.925 0.120 1 94527220 downstream gene variant C/T snv 0.010 1.000 1 2009 2009
dbSNP: rs13293512
rs13293512 		11 0.763 0.360 9 94167461 intron variant T/C snv 0.24 0.010 1.000 1 2016 2016
dbSNP: rs42039
rs42039
CDK6
3 1.000 0.080 7 92615108 3 prime UTR variant C/T snv 0.19 0.19 0.700 1.000 1 2018 2018
dbSNP: rs2666433
rs2666433
MIR34A ; MIR34AHG
2 0.925 0.080 1 9153118 intron variant A/G snv 0.82 0.010 1.000 1 2019 2019