VLDLR, very low density lipoprotein receptor, 7436

N. diseases: 143; N. variants: 24
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: rs7863951
rs7863951 		9 2644874 intron variant T/C snv 7.4E-03 2.9E-02
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs7863951
rs7863951 		9 2644874 intron variant T/C snv 7.4E-03 2.9E-02
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs7863951
rs7863951 		9 2644874 intron variant T/C snv 7.4E-03 2.9E-02
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs1563764078
rs1563764078 		1.000 0.160 9 2648349 splice donor variant T/C snv
CUI: C4551552
Disease: Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1563764078
rs1563764078 		1.000 0.160 9 2648349 splice donor variant T/C snv
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.700 0
dbSNP: rs397514750
rs397514750 		1.000 0.160 9 2650382 missense variant G/T snv
CUI: C4551552
Disease: Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs398122380
rs398122380 		1.000 0.160 9 2645017 frameshift variant TACAAGT/- delins
CUI: C4551552
Disease: Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs80338905
rs80338905 		1.000 0.160 9 2645603 stop gained C/A;T snv
CUI: C4551552
Disease: Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs80338906
rs80338906 		0.925 0.160 9 2651877 frameshift variant T/- del
CUI: C4016431
Disease: CEREBELLAR ATAXIA AND MENTAL RETARDATION WITH QUADRUPEDAL LOCOMOTION 1
CEREBELLAR ATAXIA AND MENTAL RETARDATION WITH QUADRUPEDAL LOCOMOTION 1 		0.700 0
dbSNP: rs80338906
rs80338906 		0.925 0.160 9 2651877 frameshift variant T/- del
CUI: C4551552
Disease: Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs80338907
rs80338907 		0.925 0.160 9 2643480 stop gained C/A;T snv 4.0E-06
CUI: C4016431
Disease: CEREBELLAR ATAXIA AND MENTAL RETARDATION WITH QUADRUPEDAL LOCOMOTION 1
CEREBELLAR ATAXIA AND MENTAL RETARDATION WITH QUADRUPEDAL LOCOMOTION 1 		0.700 0
dbSNP: rs80338907
rs80338907 		0.925 0.160 9 2643480 stop gained C/A;T snv 4.0E-06
CUI: C4551552
Disease: Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1250939479
rs1250939479 		1.000 0.080 9 2622241 missense variant G/A snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2008 2008
dbSNP: rs1269252748
rs1269252748 		9 2641436 missense variant C/T snv
CUI: C0013421
Disease: Dystonia
Dystonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs1269252748
rs1269252748 		9 2641436 missense variant C/T snv
CUI: C0004134
Disease: Ataxia
Ataxia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs1269252748
rs1269252748 		9 2641436 missense variant C/T snv
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs1269252748
rs1269252748 		9 2641436 missense variant C/T snv
CUI: C0393593
Disease: Dystonia Disorders
Dystonia Disorders 		Nervous System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs1454626
rs1454626 		9 2621030 intron variant C/A snv 0.66
CUI: C0007273
Disease: Carotid Artery Diseases
Carotid Artery Diseases 		Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2008 2008
dbSNP: rs3780181
rs3780181 		1.000 0.320 9 2640759 intron variant A/G snv 0.11
CUI: C0796154
Disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1
SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms; Cardiovascular Diseases 0.010 1.000 1 2019 2019
dbSNP: rs7043199
rs7043199 		1.000 0.040 9 2621145 intron variant T/A snv 0.18
CUI: C0151744
Disease: Myocardial Ischemia
Myocardial Ischemia 		Cardiovascular Diseases 0.010 1.000 1 2017 2017