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: rs35486699
rs35486699
9 2640605 intron variant C/T snv 2.4E-02
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement
0.700 1.000 1 2012 2012
dbSNP: rs35782329
rs35782329
9 2643832 splice region variant T/C snv 8.1E-03 3.1E-02
Low density lipoprotein cholesterol measurement
0.700 1.000 1 2012 2012
dbSNP: rs35782329
rs35782329
9 2643832 splice region variant T/C snv 8.1E-03 3.1E-02
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement
0.700 1.000 1 2012 2012
dbSNP: rs35782329
rs35782329
9 2643832 splice region variant T/C snv 8.1E-03 3.1E-02
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement
0.700 1.000 1 2012 2012
dbSNP: rs7024888
rs7024888
9 2636992 intron variant T/C snv 9.1E-02
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement
0.700 1.000 1 2012 2012
dbSNP: rs7024888
rs7024888
9 2636992 intron variant T/C snv 9.1E-02
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: 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
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: rs3780181
rs3780181
1.000 0.320 9 2640759 intron variant A/G snv 0.11
Low density lipoprotein cholesterol measurement
0.800 1.000 3 2013 2018
dbSNP: rs3780181
rs3780181
1.000 0.320 9 2640759 intron variant A/G snv 0.11
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement
0.800 1.000 2 2013 2018
dbSNP: rs3780181
rs3780181
1.000 0.320 9 2640759 intron variant A/G snv 0.11
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement
0.700 1.000 1 2013 2013
dbSNP: rs369552432
rs369552432
9 2622147 5 prime UTR variant GGCGGCGGCGGC/-;GGC;GGCGGC;GGCGGCGGC;GGCGGCGGCGGCGGC;GGCGGCGGCGGCGGCGGC;GGCGGCGGCGGCGGCGGCGGC;GGCGGCGGCGGCGGCGGCGGCGGC;GGCGGCGGCGGCGGCGGCGGCGGCGGCGGC delins
CUI: C0018935
Disease: Hematocrit procedure
Hematocrit procedure
0.700 1.000 1 2016 2016
dbSNP: rs369552432
rs369552432
9 2622147 5 prime UTR variant GGCGGCGGCGGC/-;GGC;GGCGGC;GGCGGCGGC;GGCGGCGGCGGCGGC;GGCGGCGGCGGCGGCGGC;GGCGGCGGCGGCGGCGGCGGC;GGCGGCGGCGGCGGCGGCGGCGGC;GGCGGCGGCGGCGGCGGCGGCGGCGGCGGC delins
CUI: C0518015
Disease: Hemoglobin measurement
Hemoglobin measurement
0.700 1.000 1 2016 2016
dbSNP: rs7043199
rs7043199
1.000 0.040 9 2621145 intron variant T/A snv 0.18
Vascular Endothelial Growth Factor Measurement
0.700 1.000 1 2016 2016
dbSNP: rs34881325
rs34881325
9 2622134 5 prime UTR variant C/T snv 0.31
Vascular Endothelial Growth Factor Measurement
0.700 1.000 1 2017 2017
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
dbSNP: rs2219143
rs2219143
9 2622278 splice region variant G/A snv 0.37 0.31
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure
0.700 1.000 1 2019 2019
dbSNP: rs3780181
rs3780181
1.000 0.320 9 2640759 intron variant A/G snv 0.11
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: rs7032549
rs7032549
9 2623615 intron variant G/A;C snv
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement
0.700 1.000 1 2019 2019