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: rs899127658
rs899127658
F2
82 0.547 0.720 11 46739084 missense variant G/A;C snv 0.020 1.000 2 2001 2014
dbSNP: rs111033613
rs111033613
F8
3 0.925 0.080 X 154928668 missense variant G/A;T snv 0.010 1.000 1 1996 1996
dbSNP: rs1188383936
rs1188383936
F2
102 0.524 0.760 11 46725976 missense variant C/T snv 8.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs1290383918
rs1290383918
F8
2 0.925 0.080 X 154904505 missense variant C/A snv 0.010 1.000 1 1998 1998
dbSNP: rs137852358
rs137852358
F8
3 0.882 0.080 X 154861758 missense variant C/A;T snv 0.010 1.000 1 1996 1996
dbSNP: rs137852403
rs137852403
F8
2 0.925 0.080 X 154969438 missense variant C/A;T snv 0.010 1.000 1 1999 1999
dbSNP: rs137852442
rs137852442
F8
2 0.925 0.080 X 154904998 missense variant C/T snv 0.010 1.000 1 2013 2013
dbSNP: rs1799963
rs1799963
F2
25 0.695 0.400 11 46739505 3 prime UTR variant G/A snv 9.6E-03 0.010 1.000 1 2014 2014
dbSNP: rs3754689
rs3754689
LCT
2 0.925 0.080 2 135833176 missense variant C/A;G;T snv 4.8E-05; 0.24 0.010 1.000 1 2020 2020
dbSNP: rs6025
rs6025
F5
43 0.637 0.560 1 169549811 missense variant C/T snv 1.8E-02 0.010 1.000 1 2014 2014
dbSNP: rs751377893
rs751377893
F5
65 0.574 0.680 1 169546513 missense variant T/C snv 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs781901822
rs781901822
F8
1 1.000 0.080 X 154928683 missense variant C/T snv 5.6E-06 0.010 1.000 1 2013 2013
dbSNP: rs782127226
rs782127226
F8
2 0.925 0.080 X 154928962 missense variant C/A snv 4.4E-05 0.010 1.000 1 2014 2014
dbSNP: rs782198570
rs782198570
F8
1 1.000 0.080 X 154861818 missense variant T/C snv 2.2E-05 9.5E-06 0.010 1.000 1 1996 1996