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: rs10830963
rs10830963
27 0.776 0.400 11 92975544 intron variant C/G snv 0.22 0.010 1.000 1 2019 2019
dbSNP: rs182052
rs182052
19 0.701 0.440 3 186842993 intron variant G/A snv 0.38 0.010 1.000 1 2019 2019
dbSNP: rs2119882
rs2119882
9 0.807 0.320 4 186555751 upstream gene variant T/C snv 0.57 0.010 1.000 1 2019 2019
dbSNP: rs2331841
rs2331841
5 1.000 0.080 18 60161404 upstream gene variant G/A snv 0.43 0.010 1.000 1 2019 2019
dbSNP: rs266729
rs266729
37 0.637 0.560 3 186841685 upstream gene variant C/A;G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs1799883
rs1799883
36 0.658 0.440 4 119320747 missense variant T/A;C;G snv 0.73 0.010 1.000 1 2018 2018
dbSNP: rs6265
rs6265
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.010 1.000 1 2018 2018
dbSNP: rs9939609
rs9939609
FTO
98 0.559 0.720 16 53786615 intron variant T/A snv 0.41 0.010 1.000 1 2018 2018
dbSNP: rs1267969615
rs1267969615
ACE
100 0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs150924946
rs150924946
5 0.882 0.120 1 156135271 missense variant A/G snv 4.8E-04 1.6E-04 0.010 1.000 1 2017 2017
dbSNP: rs16139
rs16139
36 0.658 0.560 7 24285260 missense variant T/A;C snv 4.0E-06; 3.0E-02 0.010 1.000 1 2017 2017
dbSNP: rs60662302
rs60662302
5 0.882 0.200 1 156138593 missense variant G/A snv 2.1E-04 7.7E-04 0.010 1.000 1 2017 2017
dbSNP: rs699
rs699
AGT
134 0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58 0.010 1.000 1 2017 2017
dbSNP: rs763751076
rs763751076
3 0.925 0.160 2 240875132 missense variant C/T snv 1.2E-05 6.3E-05 0.010 1.000 1 2017 2017
dbSNP: rs771065515
rs771065515
2 1 156115240 missense variant A/G snv 2.5E-05 7.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs1572982
rs1572982
HFE
7 0.827 0.200 6 26094139 intron variant G/A;T snv 0.52; 8.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs1800544
rs1800544
12 0.790 0.160 10 111076745 upstream gene variant G/C snv 0.59 0.010 1.000 1 2016 2016
dbSNP: rs553668
rs553668
8 0.807 0.160 10 111079821 3 prime UTR variant A/G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs2059806
rs2059806
7 0.807 0.240 19 7166365 synonymous variant C/G;T snv 4.0E-06; 0.26 0.020 1.000 2 2015 2017
dbSNP: rs13702
rs13702
LPL
7 0.925 0.160 8 19966981 3 prime UTR variant T/A;C snv 0.010 1.000 1 2015 2015
dbSNP: rs1800795
rs1800795
140 0.494 0.840 7 22727026 intron variant C/G snv 0.71 0.010 < 0.001 1 2015 2015
dbSNP: rs301
rs301
LPL
7 0.925 0.160 8 19959423 intron variant T/C snv 0.24 0.26 0.010 1.000 1 2015 2015
dbSNP: rs328
rs328
LPL
19 0.732 0.440 8 19962213 stop gained C/G snv 9.2E-02 9.0E-02 0.010 1.000 1 2015 2015
dbSNP: rs5767700
rs5767700
1 22 46216775 intron variant T/C;G snv 0.010 1.000 1 2015 2015
dbSNP: rs5767743
rs5767743
1 22 46226097 intron variant T/C snv 0.36 0.010 1.000 1 2015 2015