LDLR, low density lipoprotein receptor, 3949

N. diseases: 336; N. variants: 1434
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs6511720
rs6511720
0.790 0.120 19 11091630 intron variant G/T snv 0.12
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
Cardiovascular Diseases 0.710 1.000 3 2013 2018
dbSNP: rs2738447
rs2738447
1.000 0.040 19 11116804 intron variant A/C snv 0.65
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
Cardiovascular Diseases 0.700 1.000 1 2018 2018
dbSNP: rs2228671
rs2228671
0.790 0.160 19 11100236 stop gained C/A;G;T snv 1.6E-05; 8.9E-02
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
Cardiovascular Diseases 0.040 1.000 4 2008 2020
dbSNP: rs1035071612
rs1035071612
0.763 0.240 19 11113361 missense variant C/A;T snv 4.0E-06
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
Cardiovascular Diseases 0.020 1.000 2 2001 2003
dbSNP: rs1337448484
rs1337448484
1.000 0.040 19 11102673 missense variant C/T snv 4.0E-06 2.1E-05
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
Cardiovascular Diseases 0.010 1.000 1 2003 2003
dbSNP: rs1433099
rs1433099
0.882 0.160 19 11131982 3 prime UTR variant T/A;C snv
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
Cardiovascular Diseases 0.010 1.000 1 2012 2012
dbSNP: rs17248748
rs17248748
1.000 0.040 19 11095364 intron variant C/T snv 1.1E-02
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
Cardiovascular Diseases 0.010 1.000 1 2015 2015
dbSNP: rs544456198
rs544456198
0.790 0.120 19 11116930 missense variant G/T snv 8.0E-06 2.8E-05
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
Cardiovascular Diseases 0.010 1.000 1 2003 2003
dbSNP: rs688
rs688
0.742 0.400 19 11116926 synonymous variant C/T snv 0.39 0.34
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
Cardiovascular Diseases 0.010 1.000 1 2010 2010
dbSNP: rs72658855
rs72658855
0.882 0.040 19 11100245 missense variant C/G;T snv 2.3E-03 9.4E-03
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
Cardiovascular Diseases 0.010 1.000 1 2020 2020
dbSNP: rs72658867
rs72658867
1.000 0.040 19 11120527 splice region variant G/A snv 7.4E-03 7.5E-03
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
Cardiovascular Diseases 0.010 1.000 1 2015 2015
dbSNP: rs750126678
rs750126678
1.000 0.040 19 11105229 missense variant C/T snv 4.0E-06
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
Cardiovascular Diseases 0.010 1.000 1 2003 2003
dbSNP: rs752596535
rs752596535
0.752 0.200 19 11105407 stop gained C/A;G;T snv 1.6E-05
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
Cardiovascular Diseases 0.010 1.000 1 2003 2003
dbSNP: rs753248521
rs753248521
0.882 0.120 19 11111523 missense variant A/G snv 4.0E-06
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
Cardiovascular Diseases 0.010 1.000 1 1998 1998
dbSNP: rs879254642
rs879254642
0.882 0.120 19 11105589 missense variant A/C;G snv
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
Cardiovascular Diseases 0.010 1.000 1 1998 1998
dbSNP: rs879254851
rs879254851
0.882 0.120 19 11113368 missense variant T/C snv
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
Cardiovascular Diseases 0.010 1.000 1 1998 1998