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: rs587777736
rs587777736
NOTCH1
5 0.882 0.240 9 136517908 missense variant A/G snv 0.700 1.000 1 2014 2014
dbSNP: rs757075712
rs757075712
TFAM
15 0.763 0.200 10 58390856 missense variant C/T snv 1.6E-05 1.4E-05 0.700 0
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.070 0.857 7 2000 2019
dbSNP: rs1188383936
rs1188383936
F2
102 0.524 0.760 11 46725976 missense variant C/T snv 8.0E-06 0.030 1.000 3 2002 2009
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.030 0.667 3 2001 2019
dbSNP: rs1183194405
rs1183194405
F2
19 0.716 0.440 11 46719773 missense variant G/A;T snv 4.5E-06; 4.5E-06 0.010 1.000 1 2005 2005
dbSNP: rs121918474
rs121918474
PROS1
11 0.763 0.320 3 93905799 missense variant T/C snv 2.8E-05 1.4E-05 0.010 1.000 1 2014 2014
dbSNP: rs1253103806
rs1253103806
IGF1R
3 1.000 0.040 15 98891384 missense variant G/A snv 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs1341667
rs1341667
STOX1
4 0.925 0.040 10 68882104 missense variant T/C snv 0.62 0.57 0.010 < 0.001 1 2007 2007
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 2017 2017
dbSNP: rs1799983
rs1799983
NOS3
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.010 < 0.001 1 2010 2010
dbSNP: rs1800790
rs1800790
FGB
9 0.851 0.200 4 154562556 upstream gene variant G/A snv 0.15 0.010 1.000 1 2017 2017
dbSNP: rs187980012
rs187980012
IGF1R
1 15 98908819 missense variant G/A;T snv 2.0E-05; 8.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs2297660
rs2297660
LRP8 ; LOC105378728
2 1.000 0.040 1 53266643 synonymous variant G/T snv 0.38 0.36 0.010 1.000 1 2006 2006
dbSNP: rs2536512
rs2536512
SOD3
14 0.752 0.280 4 24799693 missense variant G/A;T snv 0.55 0.010 1.000 1 2009 2009
dbSNP: rs28937590
rs28937590
BCS1L ; ZNF142
8 0.807 0.360 2 218661219 missense variant A/G snv 4.7E-04 4.1E-04 0.010 1.000 1 2008 2008
dbSNP: rs318240750
rs318240750
CDKN1C
3 0.925 0.240 11 2884119 missense variant C/A;G snv 0.010 < 0.001 1 2013 2013
dbSNP: rs4986790
rs4986790
TLR4
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs4986791
rs4986791
TLR4
182 0.456 0.840 9 117713324 missense variant C/T snv 5.7E-02 4.9E-02 0.010 1.000 1 2008 2008
dbSNP: rs6046
rs6046
F7
5 0.925 0.080 13 113118845 missense variant G/A;C;T snv 0.13 0.010 1.000 1 2017 2017
dbSNP: rs747418061
rs747418061
APC
10 0.807 0.200 5 112828920 missense variant G/A snv 3.2E-05 7.0E-06 0.010 1.000 1 1998 1998