LRP1B, LDL receptor related protein 1B, 53353

N. diseases: 63; N. variants: 33
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: rs12472911
rs12472911 		2 141470940 intron variant C/A;T snv
CUI: C1314691
Disease: Age at menarche
Age at menarche 		Behavior and Behavior Mechanisms 0.800 1.000 2 2010 2014
dbSNP: rs1033284
rs1033284 		2 141164219 intron variant G/A snv 0.33
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2015 2015
dbSNP: rs113533135
rs113533135 		1.000 0.080 2 140268867 intron variant T/C snv 2.0E-02
CUI: C1611184
Disease: Calcification of coronary artery
Calcification of coronary artery 		Nutritional and Metabolic Diseases; Cardiovascular Diseases 0.700 1.000 1 2017 2017
dbSNP: rs113533135
rs113533135 		1.000 0.080 2 140268867 intron variant T/C snv 2.0E-02
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs11895588
rs11895588 		2 141204588 intron variant G/T snv 0.12
CUI: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 1 2017 2017
dbSNP: rs12474609
rs12474609 		2 140963573 intron variant A/T snv 0.18
CUI: C0001811
Disease: Aging
Aging 		0.700 1.000 1 2010 2010
dbSNP: rs12617004
rs12617004 		2 141857567 intron variant G/A;C snv
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2017 2017
dbSNP: rs13007371
rs13007371 		2 141867184 intron variant G/A;C snv
CUI: C0596887
Disease: mathematical ability
mathematical ability 		0.700 1.000 1 2018 2018
dbSNP: rs13013614
rs13013614 		1.000 0.080 2 140964558 intron variant A/G;T snv
CUI: C0220633
Disease: Uveal melanoma
Uveal melanoma 		Neoplasms; Eye Diseases 0.700 1.000 1 2020 2020
dbSNP: rs13034371
rs13034371 		2 141805706 non coding transcript exon variant G/A snv 0.18
CUI: C0021704
Disease: Intelligence
Intelligence 		Behavior and Behavior Mechanisms 0.700 1.000 1 2018 2018
dbSNP: rs13396415
rs13396415 		2 142074189 intron variant A/C snv 0.18
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2019 2019
dbSNP: rs142320277
rs142320277 		1.000 0.080 2 140665410 intron variant G/A;C snv
CUI: C0264408
Disease: Childhood asthma
Childhood asthma 		Respiratory Tract Diseases; Immune System Diseases 0.700 1.000 1 2018 2018
dbSNP: rs142320277
rs142320277 		1.000 0.080 2 140665410 intron variant G/A;C snv
CUI: C0201968
Disease: Cortisol Measurement
Cortisol Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs1532002
rs1532002 		1.000 0.080 2 140292500 intron variant G/A snv 2.3E-02
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs1532002
rs1532002 		1.000 0.080 2 140292500 intron variant G/A snv 2.3E-02
CUI: C1611184
Disease: Calcification of coronary artery
Calcification of coronary artery 		Nutritional and Metabolic Diseases; Cardiovascular Diseases 0.700 1.000 1 2017 2017
dbSNP: rs16846817
rs16846817 		2 141672738 intron variant A/C snv 0.13
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2013 2013
dbSNP: rs17515225
rs17515225 		1.000 0.040 2 140788186 intron variant T/C snv 0.43
CUI: C0026603
Disease: Motion Sickness
Motion Sickness 		Pathological Conditions, Signs and Symptoms 0.700 1.000 1 2015 2015
dbSNP: rs17551974
rs17551974 		2 141535577 intron variant C/A snv 0.19
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2019 2019
dbSNP: rs182518743
rs182518743 		2 140639810 intron variant C/T snv 1.2E-03
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 1 2019 2019
dbSNP: rs1882642
rs1882642 		1.000 2 141104341 intron variant A/G;T snv
CUI: C0869220
Disease: Adverse effects, not elsewhere classified
Adverse effects, not elsewhere classified 		0.700 1.000 1 2019 2019
dbSNP: rs34311235
rs34311235 		1.000 0.040 2 142009864 intron variant C/T snv 0.32
CUI: C0026603
Disease: Motion Sickness
Motion Sickness 		Pathological Conditions, Signs and Symptoms 0.700 1.000 1 2015 2015
dbSNP: rs354856
rs354856 		2 141676101 intron variant T/C snv 0.13
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2013 2013
dbSNP: rs35935052
rs35935052 		2 141544934 intron variant G/T snv 0.15
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2019 2019
dbSNP: rs41497646
rs41497646 		0.925 0.040 2 140908502 intron variant A/G snv 2.7E-03
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis 		Musculoskeletal Diseases 0.700 1.000 1 2018 2018
dbSNP: rs41497646
rs41497646 		0.925 0.040 2 140908502 intron variant A/G snv 2.7E-03
CUI: C1837461
Disease: SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 		0.700 1.000 1 2018 2018