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: rs767587977
rs767587977
3 0.882 0.120 2 21002962 stop gained C/A;T snv 8.2E-06 0.010 1.000 1 1990 1990
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: rs12713559
rs12713559
10 0.776 0.120 2 21006196 missense variant G/A snv 3.4E-04 5.0E-04 0.010 1.000 1 1997 1997
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: rs777249279
rs777249279
2 0.925 0.080 2 21006422 missense variant G/A;T snv 4.0E-06 7.0E-06 0.010 < 0.001 1 1997 1997
dbSNP: rs118204057
rs118204057
LPL
16 0.732 0.400 8 19954222 missense variant G/A;C snv 1.9E-04 0.020 0.500 2 1998 1998
dbSNP: rs118204060
rs118204060
LPL
9 0.807 0.160 8 19954279 missense variant C/T snv 4.0E-05 1.4E-05 0.020 1.000 2 1998 1998
dbSNP: rs118204068
rs118204068
LPL
2 0.925 0.120 8 19955894 missense variant G/A snv 1.6E-05 1.4E-05 0.010 1.000 1 1998 1998
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: rs200353509
rs200353509
4 0.882 0.120 2 21035701 missense variant G/A;C;T snv 4.0E-06; 6.0E-05 0.010 1.000 1 1998 1998
dbSNP: rs753248521
rs753248521
4 0.882 0.120 19 11111523 missense variant A/G snv 4.0E-06 0.010 1.000 1 1998 1998
dbSNP: rs879254642
rs879254642
6 0.882 0.120 19 11105589 missense variant A/C;G snv 0.010 1.000 1 1998 1998
dbSNP: rs879254851
rs879254851
6 0.882 0.120 19 11113368 missense variant T/C snv 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 < 0.001 1 1999 1999
dbSNP: rs1801278
rs1801278
38 0.637 0.560 2 226795828 missense variant C/G;T snv 4.0E-06; 5.2E-02 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: 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 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: rs1801181
rs1801181
CBS
2 0.925 0.160 21 43060506 synonymous variant G/A snv 0.33 0.010 1.000 1 2000 2000