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: rs1799864
rs1799864
CCR2
68 0.572 0.680 3 46357717 missense variant G/A snv 0.13 0.12 0.040 0.750 4 2001 2010
dbSNP: rs201058276
rs201058276
F7
11 0.776 0.240 13 113118731 missense variant G/A;C snv 4.8E-05; 4.0E-06 0.030 0.667 3 2001 2007
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
GP6 ; LOC107985325
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
CTSG
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: rs1042714
rs1042714
ADRB2
54 0.597 0.640 5 148826910 stop gained G/C;T snv 0.68 0.050 1.000 5 2002 2018
dbSNP: rs1866389
rs1866389
THBS4
9 0.790 0.080 5 80065442 missense variant G/C snv 0.17 0.17 0.050 0.800 5 2002 2019
dbSNP: rs2228262
rs2228262
THBS1 ; FSIP1
10 0.763 0.200 15 39589977 missense variant A/G snv 7.9E-02 8.0E-02 0.040 0.750 4 2002 2011
dbSNP: rs5985
rs5985
F13A1
20 0.724 0.280 6 6318562 missense variant C/A;T snv 0.20; 2.4E-05 0.040 1.000 4 2002 2019
dbSNP: rs1042579
rs1042579
THBD
16 0.732 0.240 20 23048087 missense variant G/A;T snv 0.19 0.030 1.000 3 2002 2004
dbSNP: rs5629
rs5629
PTGIS
3 0.925 0.080 20 49513169 stop gained G/A;T snv 4.0E-06; 0.25 0.030 0.667 3 2002 2009
dbSNP: rs6131
rs6131
SELP
4 0.851 0.200 1 169611647 missense variant C/T snv 0.20 0.22 0.030 1.000 3 2002 2016
dbSNP: rs6136
rs6136
SELP
17 0.752 0.440 1 169594713 missense variant T/G snv 8.2E-02 7.5E-02 0.020 1.000 2 2002 2014
dbSNP: rs761646500
rs761646500
THBS2 ; LOC101929523
3 0.925 0.080 6 169237763 missense variant C/G snv 4.0E-06 0.020 1.000 2 2002 2019
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
PLA2G6
4 0.882 0.200 22 38128276 synonymous variant G/A snv 0.010 1.000 1 2002 2002
dbSNP: rs2303790
rs2303790
CETP
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
F13A1
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
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: 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
GJA8
1 1.000 0.080 1 147908067 missense variant G/A snv 4.0E-06 0.010 1.000 1 2002 2002