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: rs1801131
rs1801131
MTHFR
93 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 0.010 1.000 1 2019 2019
dbSNP: rs1801133
rs1801133
MTHFR
174 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.010 1.000 1 2019 2019
dbSNP: rs200581891
rs200581891
KIDINS220
1 1.000 0.040 2 8788791 missense variant C/T snv 2.0E-05 3.5E-05 0.010 1.000 1 2013 2013
dbSNP: rs3176123
rs3176123
THBD
3 1.000 0.040 20 23046776 3 prime UTR variant T/G snv 0.15 0.010 1.000 1 2017 2017
dbSNP: rs3917862
rs3917862
SELP
2 1.000 0.040 1 169623875 intron variant A/G snv 3.9E-02 0.010 1.000 1 2019 2019
dbSNP: rs398124629
rs398124629
APOH
2 0.925 0.120 17 66228149 missense variant T/C snv 0.010 1.000 1 2018 2018
dbSNP: rs5742904
rs5742904
APOB
22 0.689 0.280 2 21006288 missense variant C/A;T snv 2.8E-04 7.3E-04 0.010 1.000 1 2018 2018
dbSNP: rs5742905
rs5742905
CBS
22 0.701 0.360 21 43063074 missense variant A/G snv 0.010 1.000 1 2000 2000
dbSNP: rs5743836
rs5743836
TLR9
31 0.658 0.440 3 52226766 intron variant A/G snv 0.20 0.010 1.000 1 2017 2017
dbSNP: rs5985
rs5985
F13A1
20 0.724 0.280 6 6318562 missense variant C/A;T snv 0.20; 2.4E-05 0.010 1.000 1 2019 2019
dbSNP: rs6003
rs6003
F13B
5 0.851 0.240 1 197061891 missense variant C/T snv 0.88 0.76 0.010 1.000 1 2005 2005
dbSNP: rs758146734
rs758146734
PRH1 ; PRR4 ; PRH1-PRR4
2 0.925 0.160 12 10882273 missense variant G/A snv 4.0E-05 3.5E-05 0.010 1.000 1 2018 2018
dbSNP: rs764734814
rs764734814
PRH1 ; PRH2 ; PRR4 ; PRH1-PRR4
2 0.925 0.120 12 10930676 missense variant G/A snv 2.0E-05 7.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs765557332
rs765557332
APC
4 0.851 0.120 5 112835075 missense variant G/A snv 7.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs779071898
rs779071898
F2
2 0.925 0.080 11 46739072 missense variant G/A snv 8.0E-06 2.1E-05 0.010 1.000 1 2017 2017
dbSNP: rs805297
rs805297
BAG6 ; APOM
6 0.851 0.280 6 31654829 intron variant C/A snv 0.23 0.010 1.000 1 2016 2016
dbSNP: rs878853423
rs878853423
APC
4 0.851 0.120 5 112837663 missense variant G/A snv 0.010 1.000 1 2005 2005
dbSNP: rs9923231
rs9923231
VKORC1
6 0.851 0.200 16 31096368 upstream gene variant C/A;G;T snv 0.010 1.000 1 2019 2019