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: 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: 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: 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
dbSNP: rs1654413
rs1654413
GP6 ; LOC107985325
1 1.000 0.080 19 55014991 missense variant A/G;T snv 3.7E-05; 2.0E-05; 0.80; 4.4E-04 0.010 1.000 1 2003 2003
dbSNP: rs1042579
rs1042579
THBD
16 0.732 0.240 20 23048087 missense variant G/A;T snv 0.19 0.010 1.000 1 2004 2004
dbSNP: rs147377392
rs147377392
THBD
11 0.763 0.120 20 23048144 missense variant A/G snv 1.0E-04 2.8E-04 0.010 1.000 1 2004 2004
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: rs1263282981
rs1263282981
NR4A3 ; STX17-AS1
2 1.000 0.080 9 99828749 missense variant C/T snv 1.4E-05 0.010 1.000 1 2005 2005
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 2005 2005
dbSNP: rs5443
rs5443
GNB3 ; CDCA3
106 0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44 0.010 1.000 1 2005 2005
dbSNP: rs751377893
rs751377893
F5
65 0.574 0.680 1 169546513 missense variant T/C snv 4.0E-06 0.010 < 0.001 1 2005 2005