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: rs1799998
rs1799998
CYP11B2
14 0.742 0.200 8 142918184 upstream gene variant A/G;T snv 0.38 0.020 1.000 2 2013 2020
dbSNP: rs1801253
rs1801253
ADRB1
34 0.683 0.440 10 114045297 missense variant G/C snv 0.74 0.69 0.100 0.929 14 2003 2019
dbSNP: rs76992529
rs76992529
TTR
36 0.653 0.560 18 31598655 missense variant G/A snv 1.1E-03 4.9E-03 0.070 0.857 7 2010 2019
dbSNP: rs1801252
rs1801252
ADRB1
17 0.724 0.320 10 114044277 missense variant A/G snv 0.15 0.17 0.060 1.000 6 2000 2019
dbSNP: rs5186
rs5186
AGTR1
38 0.630 0.560 3 148742201 3 prime UTR variant A/C snv 0.23 0.21 0.020 1.000 2 2018 2019
dbSNP: rs9909004
rs9909004
PRKCA
2 0.925 0.040 17 66310015 intron variant C/T snv 0.59 0.020 1.000 2 2017 2019
dbSNP: rs10189761
rs10189761 		4 0.882 0.120 2 646364 intergenic variant T/A snv 0.82 0.010 1.000 1 2019 2019
dbSNP: rs10423928
rs10423928
GIPR
12 0.807 0.200 19 45679046 intron variant T/A snv 0.19 0.010 1.000 1 2019 2019
dbSNP: rs1136201
rs1136201
ERBB2
34 0.645 0.280 17 39723335 missense variant A/G;T snv 0.20 0.010 1.000 1 2019 2019
dbSNP: rs140226130
rs140226130
CCDC178
8 0.790 0.200 18 33336845 intron variant -/CTTTTTGCT delins 7.8E-02 0.010 1.000 1 2019 2019
dbSNP: rs1695
rs1695
GSTP1
188 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.010 1.000 1 2019 2019
dbSNP: rs1800437
rs1800437
GIPR
13 0.827 0.160 19 45678134 missense variant G/C snv 0.18 0.17 0.010 1.000 1 2019 2019
dbSNP: rs1801282
rs1801282
PPARG
131 0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02 0.010 < 0.001 1 2019 2019
dbSNP: rs1805192
rs1805192
PPARG
121 0.510 0.840 3 12379739 missense variant C/G snv 0.010 < 0.001 1 2019 2019
dbSNP: rs200432861
rs200432861
PKHD1
1 1.000 0.040 6 51775844 missense variant G/A;C snv 2.4E-05; 2.0E-05 0.010 1.000 1 2019 2019
dbSNP: rs2230345
rs2230345
GRK5
6 0.807 0.160 10 119326585 missense variant A/T snv 3.8E-02 9.0E-02 0.010 1.000 1 2019 2019
dbSNP: rs3212247
rs3212247
RIPK3
2 0.925 0.040 14 24340589 upstream gene variant A/G snv 0.12 0.010 1.000 1 2019 2019
dbSNP: rs3212254
rs3212254
RIPK3 ; ADCY4
2 0.925 0.040 14 24336257 missense variant G/A;T snv 1.2E-05; 7.3E-02 0.010 1.000 1 2019 2019
dbSNP: rs4149056
rs4149056
SLCO1B1
45 0.633 0.480 12 21178615 missense variant T/C snv 0.13 0.12 0.010 1.000 1 2019 2019
dbSNP: rs548787835
rs548787835
SQSTM1
1 1.000 0.040 5 179823911 missense variant C/G;T snv 1.2E-05; 1.6E-05 0.010 1.000 1 2019 2019
dbSNP: rs7311358
rs7311358
SLCO1B3 ; SLCO1B3-SLCO1B7
6 0.827 0.160 12 20862826 missense variant G/A snv 0.81 0.72 0.010 1.000 1 2019 2019
dbSNP: rs737337
rs737337
DOCK6
6 0.925 0.040 19 11236817 synonymous variant T/C snv 0.15 0.20 0.010 1.000 1 2019 2019
dbSNP: rs73956431
rs73956431
B4GALT6
6 0.827 0.120 18 31699870 regulatory region variant C/T snv 8.4E-02 0.010 1.000 1 2019 2019
dbSNP: rs9303504
rs9303504
PRKCA
2 0.925 0.040 17 66319248 intron variant G/C snv 0.59 0.010 1.000 1 2019 2019
dbSNP: rs9351814
rs9351814 		4 0.882 0.040 6 71484004 intergenic variant A/C snv 0.35 0.010 1.000 1 2019 2019