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: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.050 1.000 5 2000 2014
dbSNP: rs1188383936
rs1188383936
F2
102 0.524 0.760 11 46725976 missense variant C/T snv 8.0E-06 0.040 1.000 4 2001 2016
dbSNP: rs899127658
rs899127658
F2
82 0.547 0.720 11 46739084 missense variant G/A;C snv 0.030 1.000 3 2003 2017
dbSNP: rs751377893
rs751377893
F5
65 0.574 0.680 1 169546513 missense variant T/C snv 4.0E-06 0.020 1.000 2 2006 2017
dbSNP: rs1022228924
rs1022228924
SHBG
1 1.000 0.040 17 7630506 missense variant A/G snv 0.010 1.000 1 1998 1998
dbSNP: rs1328295730
rs1328295730
PROS1
1 1.000 0.040 3 93906074 missense variant G/A snv 0.010 1.000 1 2017 2017
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 2011 2011
dbSNP: rs368927897
rs368927897
JAK2 ; INSL6
9 0.790 0.240 9 5072541 missense variant G/A;T snv 2.8E-05; 6.4E-05 0.010 1.000 1 2017 2017
dbSNP: rs387906674
rs387906674
PROS1
2 0.925 0.040 3 93893025 missense variant G/A snv 2.0E-05 0.010 1.000 1 2010 2010
dbSNP: rs552953108
rs552953108
F2
16 0.724 0.200 11 46729529 missense variant G/A snv 1.6E-05 4.2E-05 0.010 1.000 1 1996 1996
dbSNP: rs6025
rs6025
F5
43 0.637 0.560 1 169549811 missense variant C/T snv 1.8E-02 0.010 1.000 1 2011 2011
dbSNP: rs6123
rs6123
PROS1
2 0.925 0.080 3 93874275 synonymous variant T/C snv 0.43 0.34 0.010 1.000 1 2007 2007
dbSNP: rs753950548
rs753950548
PROS1
1 1.000 0.040 3 93910654 missense variant G/T snv 1.4E-05 0.010 1.000 1 2000 2000
dbSNP: rs963668412
rs963668412
PROS1
2 0.925 0.040 3 93927362 missense variant C/T snv 8.0E-06 1.4E-05 0.010 1.000 1 1999 1999