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: rs16851720
rs16851720
RNF7
5 0.827 0.120 3 141744456 intron variant A/C snv 0.21 0.810 0.500 2 2012 2017
dbSNP: rs376373278
rs376373278
MPO
3 0.882 0.120 17 58279015 missense variant G/A;C snv 4.2E-06 0.020 1.000 2 2011 2012
dbSNP: rs972427414
rs972427414
MPO
3 0.882 0.120 17 58279379 missense variant A/G snv 0.020 1.000 2 2011 2012
dbSNP: rs10945859
rs10945859
PRKN
3 0.882 0.120 6 162721570 intron variant T/C snv 0.17 0.010 1.000 1 2017 2017
dbSNP: rs121918664
rs121918664
TERT
4 0.851 0.120 5 1254395 missense variant C/T snv 5.2E-05 9.1E-05 0.010 1.000 1 2017 2017
dbSNP: rs1431315635
rs1431315635
HFE ; LOC108783645
3 0.882 0.120 6 26092928 missense variant C/T snv 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs1469557
rs1469557
LOC101929248
2 0.925 0.120 8 10849291 downstream gene variant C/T snv 0.18 0.010 1.000 1 2016 2016
dbSNP: rs1485766
rs1485766
VEGFC ; LOC105377555
3 0.882 0.120 4 176689730 intron variant T/A;G snv 0.010 1.000 1 2014 2014
dbSNP: rs1545224
rs1545224
FABP1
2 0.925 0.120 2 88124297 3 prime UTR variant A/G snv 0.18 0.010 1.000 1 2018 2018
dbSNP: rs2289030
rs2289030
KRT19P2 ; MIR492
6 0.882 0.120 12 94834510 non coding transcript exon variant G/C snv 9.7E-02 6.3E-02 0.010 1.000 1 2016 2016
dbSNP: rs2629751
rs2629751
GLT8D2
2 0.925 0.120 12 104028030 intron variant A/G snv 0.36 0.800 1.000 1 2012 2012
dbSNP: rs2645424
rs2645424
FDFT1
5 0.827 0.120 8 11826954 intron variant A/C;G snv 0.56 0.700 1.000 1 2010 2010
dbSNP: rs3820998
rs3820998
TANK ; LOC105373719
3 0.882 0.120 2 161138615 intron variant C/A;T snv 0.010 1.000 1 2012 2012
dbSNP: rs3844942
rs3844942 		3 0.882 0.120 4 189571800 intergenic variant T/C snv 0.010 < 0.001 1 2017 2017
dbSNP: rs3859501
rs3859501
MIR371A ; MIR372 ; MIR373 ; MIR371B
3 0.882 0.120 19 53788157 non coding transcript exon variant A/C snv 0.43 0.010 1.000 1 2012 2012
dbSNP: rs642588
rs642588
IGF2R
2 0.925 0.120 6 159990235 intron variant A/G snv 0.83 0.010 < 0.001 1 2019 2019
dbSNP: rs747432300
rs747432300
GPT ; LOC101928953
2 0.925 0.120 8 144504357 missense variant C/A;T snv 8.1E-06; 1.2E-04 0.010 1.000 1 2009 2009
dbSNP: rs755284374
rs755284374
HFE
3 0.882 0.120 6 26093122 missense variant C/A;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs767864210
rs767864210
PDLIM5
3 0.882 0.120 4 94657500 missense variant G/A;T snv 8.0E-05 2.1E-05 0.010 1.000 1 2010 2010
dbSNP: rs843645
rs843645
ACYP2
5 0.827 0.120 2 54247527 intron variant T/A;G snv 0.19 0.010 1.000 1 2019 2019
dbSNP: rs897206619
rs897206619
HFE
3 0.882 0.120 6 26093128 missense variant C/T snv 3.5E-05 0.010 1.000 1 2011 2011
dbSNP: rs9380516
rs9380516 		2 0.925 0.120 6 35534425 TF binding site variant T/C snv 0.85 0.800 1.000 1 2012 2012
dbSNP: rs236918
rs236918
PCSK7
10 0.776 0.160 11 117220893 non coding transcript exon variant G/A;C snv 0.030 1.000 3 2014 2017
dbSNP: rs1012068
rs1012068
DEPDC5
5 0.827 0.160 22 31869917 intron variant T/G snv 0.37 0.020 1.000 2 2014 2016
dbSNP: rs12304647
rs12304647
HOXC6 ; MIR196A2
6 0.807 0.160 12 53991163 intron variant A/C snv 0.26 0.020 1.000 2 2014 2016