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: rs774229224
rs774229224
PLG
6 0.882 0.160 6 160706454 missense variant C/A;G snv 4.0E-06; 4.0E-06 0.010 1.000 1 1998 1998
dbSNP: rs9898
rs9898
3 0.925 0.160 3 186672838 missense variant C/T snv 0.38 0.43 0.010 1.000 1 1998 1998
dbSNP: rs150629733
rs150629733
4 0.851 0.080 3 148741190 missense variant T/C;G snv 4.0E-06; 8.8E-05 0.010 1.000 1 1999 1999
dbSNP: rs5940
rs5940
3 0.882 0.080 2 187466977 missense variant C/T snv 1.3E-02 1.4E-02 0.010 1.000 1 1999 1999
dbSNP: rs763351020
rs763351020
35 0.633 0.560 7 101132046 missense variant C/T snv 4.0E-06 0.010 1.000 1 1999 1999
dbSNP: rs1312546120
rs1312546120
F5
7 0.807 0.160 1 169541191 missense variant T/C snv 4.0E-06 0.010 1.000 1 2000 2000
dbSNP: rs771676129
rs771676129
7 0.827 0.080 7 80671082 synonymous variant C/T snv 4.0E-06 0.030 0.667 3 1999 2001
dbSNP: rs999947969
rs999947969
7 0.827 0.080 7 80671145 synonymous variant C/T snv 0.030 0.667 3 1999 2001
dbSNP: rs1177506410
rs1177506410
AGT
12 0.776 0.240 1 230706148 missense variant G/C snv 4.0E-06 7.0E-06 0.010 1.000 1 2001 2001
dbSNP: rs1275805226
rs1275805226
AGT
12 0.776 0.240 1 230706148 frameshift variant G/- del 7.0E-06 0.010 1.000 1 2001 2001
dbSNP: rs1613662
rs1613662
8 0.851 0.120 19 55025227 missense variant G/A snv 0.85 0.83 0.010 1.000 1 2001 2001
dbSNP: rs45567233
rs45567233
3 0.882 0.200 14 24574465 missense variant T/C snv 8.0E-02 5.9E-02 0.010 1.000 1 2001 2001
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: rs1310478538
rs1310478538
C3
4 0.851 0.080 19 6713295 missense variant C/G snv 1.4E-05 0.010 1.000 1 2002 2002
dbSNP: rs1369837875
rs1369837875
4 0.882 0.200 22 38128276 synonymous variant G/A snv 0.010 1.000 1 2002 2002
dbSNP: rs2303790
rs2303790
19 0.724 0.280 16 56983380 missense variant A/G snv 2.6E-03 6.5E-04 0.010 1.000 1 2002 2002
dbSNP: rs3024477
rs3024477
3 0.882 0.160 6 6250887 missense variant T/A snv 1.8E-02 1.9E-02 0.010 1.000 1 2002 2002
dbSNP: rs374520012
rs374520012
LBP
3 0.882 0.120 20 38373994 missense variant T/C;G snv 8.0E-06; 4.0E-06 0.010 1.000 1 2002 2002
dbSNP: rs4358188
rs4358188
BPI
7 0.827 0.160 20 38318446 missense variant G/A;C snv 0.46 0.010 1.000 1 2002 2002
dbSNP: rs5982
rs5982
3 0.882 0.160 6 6174633 missense variant G/A snv 0.21 0.19 0.010 1.000 1 2002 2002
dbSNP: rs778747981
rs778747981
F2R
1 1.000 0.080 5 76732556 missense variant G/A snv 8.0E-06 7.0E-06 0.010 1.000 1 2002 2002
dbSNP: rs781888882
rs781888882
1 1.000 0.080 1 147908067 missense variant G/A snv 4.0E-06 0.010 1.000 1 2002 2002
dbSNP: rs867479748
rs867479748
2 0.925 0.160 1 169603047 missense variant C/T snv 0.010 1.000 1 2002 2002
dbSNP: rs899127658
rs899127658
F2
82 0.547 0.720 11 46739084 missense variant G/A;C snv 0.020 0.500 2 1999 2003
dbSNP: rs1255283120
rs1255283120
7 0.807 0.160 1 11792345 missense variant G/A snv 4.0E-06 7.0E-06 0.010 1.000 1 2003 2003