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: rs2289252
rs2289252
F11 ; F11-AS1
4 1.000 0.040 4 186286227 non coding transcript exon variant C/T snv 0.35 0.030 1.000 3 2009 2016
dbSNP: rs2036914
rs2036914
F11
5 0.882 0.160 4 186271327 intron variant T/C snv 0.57 0.020 1.000 2 2009 2016
dbSNP: rs6050
rs6050
FGA
10 0.827 0.120 4 154586438 missense variant T/A;C snv 0.29 0.020 1.000 2 2012 2016
dbSNP: rs113092656
rs113092656 		5 0.882 0.120 6 11615072 intergenic variant G/A snv 2.6E-02 0.700 1.000 1 2016 2016
dbSNP: rs114209171
rs114209171
FUNDC2
5 0.882 0.120 X 155050522 non coding transcript exon variant T/C snv 0.23 0.700 1.000 1 2016 2016
dbSNP: rs17490626
rs17490626
TSPAN15
5 0.882 0.120 10 69458890 intron variant G/C snv 8.4E-02 0.700 1.000 1 2016 2016
dbSNP: rs1799963
rs1799963
F2
25 0.695 0.400 11 46739505 3 prime UTR variant G/A snv 9.6E-03 0.700 1.000 1 2016 2016
dbSNP: rs2089252
rs2089252 		1 1.000 0.040 4 75909495 downstream gene variant T/C snv 2.5E-02 0.010 1.000 1 2016 2016
dbSNP: rs2232710
rs2232710
SERPINA10
2 1.000 0.040 14 94284149 missense variant T/C snv 8.1E-03 8.1E-03 0.010 1.000 1 2016 2016
dbSNP: rs34234989
rs34234989
PROCR ; MMP24-AS1-EDEM2
5 0.882 0.120 20 35186731 intron variant A/- delins 0.40 0.700 1.000 1 2016 2016
dbSNP: rs4444878
rs4444878
F11-AS1
7 0.851 0.120 4 186292729 intron variant C/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs529565
rs529565
ABO
13 0.851 0.120 9 133274084 intron variant C/T snv 0.700 1.000 1 2016 2016
dbSNP: rs60942712
rs60942712 		5 0.882 0.120 3 88998609 intergenic variant G/T snv 7.9E-02 0.700 1.000 1 2016 2016
dbSNP: rs72798544
rs72798544
COX7A2L
5 0.882 0.120 2 42372465 intron variant T/G snv 1.3E-02 0.700 1.000 1 2016 2016
dbSNP: rs7654093
rs7654093 		6 0.882 0.120 4 154623920 upstream gene variant A/T snv 0.27 0.700 1.000 1 2016 2016
dbSNP: rs9797861
rs9797861
SLC44A2
9 0.790 0.200 19 10632450 intron variant C/A;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1164821473
rs1164821473
F5
2 0.925 0.080 1 169546573 missense variant T/A;C snv 0.010 1.000 1 2017 2017
dbSNP: rs1203757587
rs1203757587
MTHFR
1 1.000 0.040 1 11792279 missense variant T/C snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs3138521
rs3138521
SERPINC1
1 1.000 0.040 1 173917605 upstream gene variant CTAACCAAGGAAACAAACTTGGTTCATACCCA/TACCTGACTGAGGAGAAACTTGTCTGCAGGATTTTTTGTTTCTCGTTAACTAAATCAGAAGATAGAAATAGTTAATGTCCAAAAACTTCTAGCCCTCTACCTGTAATT delins 0.010 1.000 1 2017 2017
dbSNP: rs5918
rs5918
ITGB3
26 0.683 0.480 17 47283364 missense variant T/C snv 0.12 0.13 0.010 1.000 1 2017 2017
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: rs899127658
rs899127658
F2
82 0.547 0.720 11 46739084 missense variant G/A;C snv 0.090 1.000 9 1999 2018
dbSNP: rs751377893
rs751377893
F5
65 0.574 0.680 1 169546513 missense variant T/C snv 4.0E-06 0.070 1.000 7 2000 2018
dbSNP: rs1801394
rs1801394
MTRR ; FASTKD3
101 0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45 0.020 0.500 2 2008 2018
dbSNP: rs121918146
rs121918146
PROC ; LOC105373608
5 0.827 0.200 2 127428485 missense variant G/A snv 1.2E-05 2.1E-05 0.010 1.000 1 2018 2018