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: rs12766939
rs12766939
CUBN
2 0.925 0.160 10 17031136 intron variant A/G snv 0.23 0.010 1.000 1 2020 2020
dbSNP: rs1801222
rs1801222
CUBN
5 0.925 0.160 10 17114152 missense variant A/G snv 0.73 0.72 0.010 1.000 1 2020 2020
dbSNP: rs2075252
rs2075252
LRP2
5 0.925 0.160 2 169154475 stop gained T/A;C snv 0.76 0.010 1.000 1 2020 2020
dbSNP: rs4343
rs4343
ACE
14 0.742 0.480 17 63488670 synonymous variant G/A snv 0.53 0.010 1.000 1 2020 2020
dbSNP: rs4668123
rs4668123
LRP2
6 0.851 0.280 2 169196995 missense variant C/A;G;T snv 0.010 1.000 1 2020 2020
dbSNP: rs662
rs662
PON1
157 0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42 0.030 0.667 3 2011 2019
dbSNP: rs1187513719
rs1187513719
CYP2C19
4 0.851 0.200 10 94780595 missense variant A/G snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs1234314
rs1234314
TNFSF4
7 0.790 0.320 1 173208253 upstream gene variant C/A;G snv 0.010 1.000 1 2019 2019
dbSNP: rs17568
rs17568
TNFRSF4
12 0.752 0.320 1 1212042 synonymous variant C/T snv 0.37 0.31 0.010 1.000 1 2019 2019
dbSNP: rs2043556
rs2043556
PRKG1 ; MIR605
17 0.716 0.440 10 51299646 non coding transcript exon variant T/C snv 0.25 0.24 0.010 1.000 1 2019 2019
dbSNP: rs2070744
rs2070744
NOS3
54 0.608 0.680 7 150992991 intron variant C/T snv 0.70 0.010 1.000 1 2019 2019
dbSNP: rs28362491
rs28362491
NFKB1 ; LOC105377621
56 0.592 0.720 4 102500998 non coding transcript exon variant ATTG/- delins 0.010 1.000 1 2019 2019
dbSNP: rs3850641
rs3850641
TNFSF4
17 0.716 0.400 1 173206693 intron variant A/G snv 0.14 0.010 1.000 1 2019 2019
dbSNP: rs4244285
rs4244285
CYP2C19
18 0.695 0.360 10 94781859 synonymous variant G/A;C snv 0.18 0.010 1.000 1 2019 2019
dbSNP: rs869109213
rs869109213
NOS3
10 0.790 0.200 7 150997269 intron variant GGGGGTGAGGAAGTCTAGACCTGCTGCG/A delins 0.010 1.000 1 2019 2019
dbSNP: rs3732378
rs3732378
CX3CR1
48 0.620 0.720 3 39265671 missense variant G/A snv 0.14 0.12 0.020 1.000 2 2005 2018
dbSNP: rs671
rs671
ALDH2
116 0.529 0.840 12 111803962 missense variant G/A snv 1.9E-02 5.8E-03 0.020 1.000 2 2011 2018
dbSNP: rs11635252
rs11635252
CRTC3
4 0.925 0.080 15 90528542 upstream gene variant T/C snv 0.88 0.010 1.000 1 2018 2018
dbSNP: rs12566888
rs12566888
PEAR1
7 0.807 0.280 1 156899255 intron variant G/T snv 0.26 0.010 1.000 1 2018 2018
dbSNP: rs1994016
rs1994016
ADAMTS7
7 0.851 0.160 15 78787892 intron variant C/T snv 0.30 0.010 1.000 1 2018 2018
dbSNP: rs2768759
rs2768759 		4 0.851 0.200 1 156882671 downstream gene variant A/C;G snv 0.010 1.000 1 2018 2018
dbSNP: rs3737224
rs3737224
PEAR1
3 0.882 0.160 1 156909788 synonymous variant C/T snv 0.14 0.13 0.010 1.000 1 2018 2018
dbSNP: rs41273215
rs41273215
PEAR1
3 0.882 0.160 1 156912167 intron variant C/T snv 0.13 0.010 1.000 1 2018 2018
dbSNP: rs41507953
rs41507953
EPHX2
10 0.790 0.280 8 27500988 missense variant A/G snv 8.7E-02 0.13 0.010 1.000 1 2018 2018
dbSNP: rs5070
rs5070
APOA1 ; APOA1-AS
5 0.882 0.160 11 116837304 intron variant A/G snv 0.56 0.60 0.010 1.000 1 2018 2018