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: rs2228671
rs2228671
0.790 0.160 19 11100236 stop gained C/A;G;T snv 1.6E-05; 8.9E-02
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis
Cardiovascular Diseases 0.030 1.000 3 2010 2020
dbSNP: rs1035071612
rs1035071612
0.763 0.240 19 11113361 missense variant C/A;T snv 4.0E-06
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis
Cardiovascular Diseases 0.010 1.000 1 2001 2001
dbSNP: rs544456198
rs544456198
0.790 0.120 19 11116930 missense variant G/T snv 8.0E-06 2.8E-05
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis
Cardiovascular Diseases 0.010 1.000 1 2003 2003
dbSNP: rs6511720
rs6511720
0.790 0.120 19 11091630 intron variant G/T snv 0.12
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis
Cardiovascular Diseases 0.010 1.000 1 2013 2013
dbSNP: rs688
rs688
0.742 0.400 19 11116926 synonymous variant C/T snv 0.39 0.34
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis
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: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis
Cardiovascular Diseases 0.010 1.000 1 2020 2020
dbSNP: rs752596535
rs752596535
0.752 0.200 19 11105407 stop gained C/A;G;T snv 1.6E-05
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis
Cardiovascular Diseases 0.010 1.000 1 2003 2003