LRP2, LDL receptor related protein 2, 4036

N. diseases: 254; N. variants: 51
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: rs80338747
rs80338747 		0.925 0.320 2 169205630 missense variant A/G snv
CUI: C1857277
Disease: Donnai-Barrow syndrome
Donnai-Barrow syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.800 1.000 1 2007 2007
dbSNP: rs12988804
rs12988804 		1.000 0.080 2 169261301 intron variant C/T snv 0.24
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		Immune System Diseases; Nervous System Diseases 0.710 1.000 2 2017 2018
dbSNP: rs16856823
rs16856823 		2 169343942 intron variant A/T snv 4.6E-02
CUI: C0202239
Disease: Uric acid measurement (procedure)
Uric acid measurement (procedure) 		0.700 1.000 2 2018 2019
dbSNP: rs2075251
rs2075251 		2 169154948 intron variant T/A;C snv
CUI: C0202239
Disease: Uric acid measurement (procedure)
Uric acid measurement (procedure) 		0.700 1.000 2 2018 2019
dbSNP: rs2390793
rs2390793 		2 169348613 intron variant C/A;T snv
CUI: C0202239
Disease: Uric acid measurement (procedure)
Uric acid measurement (procedure) 		0.700 1.000 2 2019 2019
dbSNP: rs35472707
rs35472707 		2 169139071 intron variant C/T snv 4.1E-02
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 2 2019 2019
dbSNP: rs3770636
rs3770636 		2 169346323 intron variant T/G snv 4.6E-02
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 2 2019 2019
dbSNP: rs4667594
rs4667594 		2 169151996 intron variant T/A;C snv
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 2 2016 2019
dbSNP: rs760114690
rs760114690 		1.000 0.320 2 169318886 splice acceptor variant T/C snv 8.0E-06
CUI: C1857277
Disease: Donnai-Barrow syndrome
Donnai-Barrow syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 2 2003 2007
dbSNP: rs12988804
rs12988804 		1.000 0.080 2 169261301 intron variant C/T snv 0.24
CUI: C0679254
Disease: Disease recurrence
Disease recurrence 		0.700 1.000 1 2017 2017
dbSNP: rs142093111
rs142093111 		2 169188258 missense variant G/A snv 1.7E-04 2.2E-04
CUI: C0201976
Disease: Creatinine measurement, serum (procedure)
Creatinine measurement, serum (procedure) 		0.700 1.000 1 2018 2018
dbSNP: rs147287428
rs147287428 		2 169206713 missense variant C/T snv 2.7E-04 4.7E-04
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 1 2018 2018
dbSNP: rs147287428
rs147287428 		2 169206713 missense variant C/T snv 2.7E-04 4.7E-04
CUI: C0202239
Disease: Uric acid measurement (procedure)
Uric acid measurement (procedure) 		0.700 1.000 1 2018 2018
dbSNP: rs16856594
rs16856594 		2 169197702 intron variant G/T snv 4.1E-02
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs16856594
rs16856594 		2 169197702 intron variant G/T snv 4.1E-02
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs16856823
rs16856823 		2 169343942 intron variant A/T snv 4.6E-02
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 1 2018 2018
dbSNP: rs16856823
rs16856823 		2 169343942 intron variant A/T snv 4.6E-02
CUI: C0201976
Disease: Creatinine measurement, serum (procedure)
Creatinine measurement, serum (procedure) 		0.700 1.000 1 2018 2018
dbSNP: rs189798425
rs189798425 		2 169232345 intron variant T/C snv 3.4E-03
CUI: C0042834
Disease: Vital capacity
Vital capacity 		0.700 1.000 1 2019 2019
dbSNP: rs200309784
rs200309784 		2 169347589 intron variant AA/-;A;AAA;AAAA delins
CUI: C0201976
Disease: Creatinine measurement, serum (procedure)
Creatinine measurement, serum (procedure) 		0.700 1.000 1 2018 2018
dbSNP: rs200309784
rs200309784 		2 169347589 intron variant AA/-;A;AAA;AAAA delins
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 1 2018 2018
dbSNP: rs200469773
rs200469773 		0.925 0.120 2 169237232 missense variant C/T snv 4.0E-05 4.2E-05
CUI: C0740394
Disease: Hyperuricemia
Hyperuricemia 		Pathological Conditions, Signs and Symptoms 0.700 1.000 1 2018 2018
dbSNP: rs200469773
rs200469773 		0.925 0.120 2 169237232 missense variant C/T snv 4.0E-05 4.2E-05
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2018 2018
dbSNP: rs2075252
rs2075252 		0.925 0.160 2 169154475 stop gained T/A;C snv 0.76
CUI: C0033687
Disease: Proteinuria
Proteinuria 		Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2019 2019
dbSNP: rs2268365
rs2268365 		2 169237659 intron variant T/C snv 0.13
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2015 2015
dbSNP: rs2544390
rs2544390 		0.925 0.080 2 169348336 intron variant C/T snv 0.45
CUI: C0202239
Disease: Uric acid measurement (procedure)
Uric acid measurement (procedure) 		0.700 1.000 1 2010 2010