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: rs5182
rs5182
16 0.742 0.160 3 148741608 synonymous variant C/T snv 0.49 0.41 0.010 < 0.001 1 1994 1994
dbSNP: rs1264352930
rs1264352930
6 0.807 0.120 11 116836082 missense variant C/A snv 4.2E-06 0.010 1.000 1 1996 1996
dbSNP: rs1384889210
rs1384889210
5 0.827 0.040 11 116836193 missense variant C/A snv 0.010 1.000 1 1996 1996
dbSNP: rs267606661
rs267606661
10 0.763 0.120 19 44909101 missense variant C/G;T snv 3.9E-04; 1.0E-05 0.010 1.000 1 1997 1997
dbSNP: rs141383962
rs141383962
CLU
3 0.882 0.040 8 27605112 missense variant C/G;T snv 7.2E-05 1.0E-04 0.010 1.000 1 1998 1998
dbSNP: rs142677199
rs142677199
ACE
4 0.882 0.040 17 63479897 missense variant G/A;T snv 3.2E-05 0.010 1.000 1 1999 1999
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: rs553350297
rs553350297
4 0.882 0.040 3 148741588 missense variant G/A snv 1.2E-05 2.1E-05 0.010 1.000 1 1999 1999
dbSNP: rs761401927
rs761401927
ACE
4 0.882 0.040 17 63488704 missense variant G/A snv 9.1E-05 0.010 1.000 1 1999 1999
dbSNP: rs762079672
rs762079672
AGT
4 0.882 0.040 1 230710211 missense variant C/T snv 4.0E-06 0.010 1.000 1 1999 1999
dbSNP: rs764929617
rs764929617
8 0.776 0.200 19 44907799 missense variant C/T snv 4.0E-06 0.010 1.000 1 1999 1999
dbSNP: rs6020
rs6020
F5
3 0.882 0.040 1 169549874 missense variant C/T snv 0.11 0.12 0.020 1.000 2 2000 2000
dbSNP: rs5443
rs5443
106 0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44 0.010 1.000 1 2000 2000
dbSNP: rs1267969615
rs1267969615
ACE
100 0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06 0.020 1.000 2 2000 2001
dbSNP: rs1035071612
rs1035071612
9 0.763 0.240 19 11113361 missense variant C/A;T snv 4.0E-06 0.010 1.000 1 2001 2001
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: rs965384857
rs965384857
LPL
5 0.827 0.160 8 19954234 missense variant G/A snv 4.0E-06 0.010 1.000 1 2002 2002
dbSNP: rs56149945
rs56149945
49 0.595 0.680 5 143399752 missense variant T/A;C snv 2.0E-02 0.020 0.500 2 2001 2003
dbSNP: rs4986791
rs4986791
182 0.456 0.840 9 117713324 missense variant C/T snv 5.7E-02 4.9E-02 0.010 1.000 1 2003 2003
dbSNP: rs544456198
rs544456198
9 0.790 0.120 19 11116930 missense variant G/T snv 8.0E-06 2.8E-05 0.010 1.000 1 2003 2003
dbSNP: rs752596535
rs752596535
14 0.752 0.200 19 11105407 stop gained C/A;G;T snv 1.6E-05 0.010 1.000 1 2003 2003
dbSNP: rs185847354
rs185847354
11 0.763 0.160 3 186854460 missense variant T/C snv 3.1E-04 7.0E-05 0.010 1.000 1 2004 2004
dbSNP: rs1866389
rs1866389
9 0.790 0.080 5 80065442 missense variant G/C snv 0.17 0.17 0.010 < 0.001 1 2004 2004
dbSNP: rs1805087
rs1805087
MTR
135 0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 0.030 1.000 3 2001 2005
dbSNP: rs268
rs268
LPL
41 0.637 0.480 8 19956018 missense variant A/G snv 1.3E-02 1.3E-02 0.020 1.000 2 2001 2005