HPR, haptoglobin-related protein, 3250

N. diseases: 94; N. variants: 5
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: rs2000999
rs2000999 		1.000 0.080 16 72074194 intron variant G/A snv 0.16
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.800 1.000 7 2010 2019
dbSNP: rs2000999
rs2000999 		1.000 0.080 16 72074194 intron variant G/A snv 0.16
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.800 1.000 6 2010 2018
dbSNP: rs2000999
rs2000999 		1.000 0.080 16 72074194 intron variant G/A snv 0.16
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 4 2010 2013
dbSNP: rs2000999
rs2000999 		1.000 0.080 16 72074194 intron variant G/A snv 0.16
CUI: C0518015
Disease: Hemoglobin measurement
Hemoglobin measurement 		0.700 1.000 1 2017 2017
dbSNP: rs2000999
rs2000999 		1.000 0.080 16 72074194 intron variant G/A snv 0.16
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2012 2012
dbSNP: rs217184
rs217184 		16 72072066 intron variant T/C snv 0.19
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2019 2019
dbSNP: rs217184
rs217184 		16 72072066 intron variant T/C snv 0.19
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs34042070
rs34042070 		16 72067626 intron variant C/G snv 0.17
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs34042070
rs34042070 		16 72067626 intron variant C/G snv 0.17
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		Cardiovascular Diseases 0.700 1.000 1 2019 2019
dbSNP: rs34042070
rs34042070 		16 72067626 intron variant C/G snv 0.17
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2012 2012
dbSNP: rs34042070
rs34042070 		16 72067626 intron variant C/G snv 0.17
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2019 2019
dbSNP: rs3794695
rs3794695 		16 72063928 intron variant C/A;T snv
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2012 2012
dbSNP: rs3794695
rs3794695 		16 72063928 intron variant C/A;T snv
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2019 2019
dbSNP: rs3794695
rs3794695 		16 72063928 intron variant C/A;T snv
CUI: C0001948
Disease: Alcohol consumption
Alcohol consumption 		Behavior and Behavior Mechanisms 0.700 1.000 1 2019 2019
dbSNP: rs3794695
rs3794695 		16 72063928 intron variant C/A;T snv
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2019 2019
dbSNP: rs75444904
rs75444904 		0.851 0.160 16 72061751 intron variant A/C snv 2.4E-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 2018 2018
dbSNP: rs2000999
rs2000999 		1.000 0.080 16 72074194 intron variant G/A snv 0.16
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.020 0.500 2 2019 2019
dbSNP: rs2000999
rs2000999 		1.000 0.080 16 72074194 intron variant G/A snv 0.16
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		Cardiovascular Diseases 0.010 1.000 1 2019 2019
dbSNP: rs75444904
rs75444904 		0.851 0.160 16 72061751 intron variant A/C snv 2.4E-02
CUI: C2316810
Disease: Chronic kidney disease stage 5
Chronic kidney disease stage 5 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2018 2018
dbSNP: rs75444904
rs75444904 		0.851 0.160 16 72061751 intron variant A/C snv 2.4E-02
CUI: C0011881
Disease: Diabetic Nephropathy
Diabetic Nephropathy 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs75444904
rs75444904 		0.851 0.160 16 72061751 intron variant A/C snv 2.4E-02
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2018 2018