LRP1, LDL receptor related protein 1, 4035

N. diseases: 252; N. variants: 23
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: rs11172113
rs11172113 		0.882 0.080 12 57133500 intron variant T/C snv 0.42
CUI: C0149931
Disease: Migraine Disorders
Migraine Disorders 		Nervous System Diseases 0.850 1.000 9 2011 2019
dbSNP: rs1466535
rs1466535 		0.790 0.160 12 57140687 intron variant G/A;C snv
CUI: C0162871
Disease: Aortic Aneurysm, Abdominal
Aortic Aneurysm, Abdominal 		Cardiovascular Diseases 0.840 1.000 4 2011 2015
dbSNP: rs11172113
rs11172113 		0.882 0.080 12 57133500 intron variant T/C snv 0.42
CUI: C0338480
Disease: Common Migraine
Common Migraine 		Nervous System Diseases 0.800 1.000 2 2013 2016
dbSNP: rs11172113
rs11172113 		0.882 0.080 12 57133500 intron variant T/C snv 0.42
CUI: C0035227
Disease: Respiratory Function Tests
Respiratory Function Tests 		0.700 1.000 1 2011 2011
dbSNP: rs11172113
rs11172113 		0.882 0.080 12 57133500 intron variant T/C snv 0.42
CUI: C3160731
Disease: Pulmonary function (finding)
Pulmonary function (finding) 		0.700 1.000 1 2011 2011
dbSNP: rs11172113
rs11172113 		0.882 0.080 12 57133500 intron variant T/C snv 0.42
CUI: C0231921
Disease: Pulmonary function
Pulmonary function 		0.700 1.000 1 2011 2011
dbSNP: rs11172113
rs11172113 		0.882 0.080 12 57133500 intron variant T/C snv 0.42
CUI: C0018681
Disease: Headache
Headache 		Pathological Conditions, Signs and Symptoms 0.700 1.000 1 2018 2018
dbSNP: rs11172113
rs11172113 		0.882 0.080 12 57133500 intron variant T/C snv 0.42
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.700 1.000 1 2018 2018
dbSNP: rs11172113
rs11172113 		0.882 0.080 12 57133500 intron variant T/C snv 0.42
CUI: C1518922
Disease: peak expiratory flow (procedure)
peak expiratory flow (procedure) 		0.700 1.000 1 2019 2019
dbSNP: rs11172114
rs11172114 		12 57135660 intron variant C/T snv 0.31
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2017 2017
dbSNP: rs1385526
rs1385526 		1.000 0.040 12 57138966 intron variant G/C snv 0.26
CUI: C0162871
Disease: Aortic Aneurysm, Abdominal
Aortic Aneurysm, Abdominal 		Cardiovascular Diseases 0.700 1.000 1 2017 2017
dbSNP: rs34574998
rs34574998 		12 57154581 synonymous variant T/C snv 2.3E-02 4.0E-02
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2012 2012
dbSNP: rs34576916
rs34576916 		12 57209288 intron variant C/G snv 4.0E-04
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs34614287
rs34614287 		12 57155352 3 prime UTR variant C/G snv 6.8E-04
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs34614287
rs34614287 		12 57155352 3 prime UTR variant C/G snv 6.8E-04
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs34614287
rs34614287 		12 57155352 3 prime UTR variant C/G snv 6.8E-04
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs34614287
rs34614287 		12 57155352 3 prime UTR variant C/G snv 6.8E-04
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2012 2012
dbSNP: rs34630693
rs34630693 		12 57212472 missense variant C/A;T snv 1.2E-05; 2.0E-05
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs34630693
rs34630693 		12 57212472 missense variant C/A;T snv 1.2E-05; 2.0E-05
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs34630693
rs34630693 		12 57212472 missense variant C/A;T snv 1.2E-05; 2.0E-05
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs34630693
rs34630693 		12 57212472 missense variant C/A;T snv 1.2E-05; 2.0E-05
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2012 2012
dbSNP: rs34660894
rs34660894 		12 57129111 intron variant G/A snv 2.3E-03 1.0E-02
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs34660894
rs34660894 		12 57129111 intron variant G/A snv 2.3E-03 1.0E-02
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs34660894
rs34660894 		12 57129111 intron variant G/A snv 2.3E-03 1.0E-02
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 1 2012 2012
dbSNP: rs34660894
rs34660894 		12 57129111 intron variant G/A snv 2.3E-03 1.0E-02
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 1 2012 2012