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: rs879254405
rs879254405
LDLR
5 0.882 0.160 19 11100255 missense variant T/G snv 0.700 0
dbSNP: rs879254538
rs879254538
LDLR
5 0.851 0.200 19 11105378 frameshift variant T/- del 0.700 0
dbSNP: rs879254600
rs879254600
LDLR
5 0.882 0.160 19 11105532 missense variant G/A snv 0.700 0
dbSNP: rs879254682
rs879254682
LDLR
4 0.882 0.160 19 11106678 missense variant T/A;C snv 0.700 0
dbSNP: rs879254712
rs879254712
LDLR
6 0.827 0.200 19 11107470 frameshift variant C/- del 0.700 0
dbSNP: rs879254754
rs879254754
LDLR
4 0.882 0.160 19 11110724 missense variant G/A;T snv 0.700 0
dbSNP: rs879254788
rs879254788
LDLR ; MIR6886
4 0.882 0.160 19 11111544 missense variant G/A;C;T snv 0.700 0
dbSNP: rs879254885
rs879254885
LDLR ; MIR6886
4 0.882 0.160 19 11113552 frameshift variant CCAC/- delins 0.700 0
dbSNP: rs879254933
rs879254933
LDLR ; MIR6886
4 0.882 0.160 19 11113708 frameshift variant -/A delins 0.700 0
dbSNP: rs879254937
rs879254937
LDLR ; MIR6886
4 0.882 0.160 19 11113728 missense variant A/G snv 0.700 0
dbSNP: rs879254965
rs879254965
LDLR
7 0.827 0.200 19 11116140 missense variant G/A;C;T snv 0.700 0
dbSNP: rs879255038
rs879255038
LDLR
6 0.851 0.160 19 11116982 missense variant C/G;T snv 4.0E-06 0.700 0
dbSNP: rs879255130
rs879255130
LDLR
5 0.882 0.160 19 11120446 frameshift variant C/-;CC delins 0.700 0
dbSNP: rs6025
rs6025
F5
43 0.637 0.560 1 169549811 missense variant C/T snv 1.8E-02 0.740 0.400 5 1996 2016
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.100 0.923 52 1999 2019
dbSNP: rs899127658
rs899127658
F2
82 0.547 0.720 11 46739084 missense variant G/A;C snv 0.030 0.667 3 1999 2005
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 1999 1999
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 1999 1999
dbSNP: rs662
rs662
PON1
157 0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42 0.100 0.929 14 2000 2019
dbSNP: rs1188383936
rs1188383936
F2
102 0.524 0.760 11 46725976 missense variant C/T snv 8.0E-06 0.090 0.778 9 2001 2013
dbSNP: rs1805087
rs1805087
MTR
135 0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 0.020 1.000 2 2001 2007
dbSNP: rs777919630
rs777919630
CBS
40 0.623 0.680 21 43062358 missense variant G/A;T snv 8.0E-06; 4.0E-06 0.010 1.000 1 2001 2001
dbSNP: rs5985
rs5985
F13A1
20 0.724 0.280 6 6318562 missense variant C/A;T snv 0.20; 2.4E-05 0.030 1.000 3 2002 2016
dbSNP: rs3024477
rs3024477
F13A1
3 0.882 0.160 6 6250887 missense variant T/A snv 1.8E-02 1.9E-02 0.020 1.000 2 2002 2008
dbSNP: rs5982
rs5982
F13A1
3 0.882 0.160 6 6174633 missense variant G/A snv 0.21 0.19 0.010 1.000 1 2002 2002