ALB, albumin, 213

N. diseases: 1198; N. variants: 21
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: rs79228041
rs79228041 		4 73419634 missense variant G/A snv
CUI: C4015752
Disease: ALBUMIN B PHENOTYPE
ALBUMIN B PHENOTYPE 		0.700 0
dbSNP: rs75353611
rs75353611 		4 73404401 missense variant A/T snv
CUI: C3889611
Disease: ALBUMIN BLENHEIM PHENOTYPE
ALBUMIN BLENHEIM PHENOTYPE 		0.700 0
dbSNP: rs770678026
rs770678026 		1.000 0.080 4 73413430 missense variant C/G snv 1.2E-05 7.0E-06
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.020 1.000 2 2013 2013
dbSNP: rs77238412
rs77238412 		4 73408735 stop gained C/G;T snv 4.0E-06
CUI: C0878666
Disease: Analbuminemia
Analbuminemia 		0.700 1.000 3 1994 2005
dbSNP: rs77335374
rs77335374 		4 73411994 splice acceptor variant A/G;T snv
CUI: C0878666
Disease: Analbuminemia
Analbuminemia 		0.700 0
dbSNP: rs77449454
rs77449454 		4 73413444 frameshift variant -/A delins
CUI: C0878666
Disease: Analbuminemia
Analbuminemia 		0.700 0
dbSNP: rs77408163
rs77408163 		4 73404407 splice donor variant G/A snv 8.0E-06
CUI: C4015776
Disease: ANALBUMINEMIA BAGHDAD
ANALBUMINEMIA BAGHDAD 		0.700 0
dbSNP: rs1162592300
rs1162592300 		0.925 0.080 4 73412045 missense variant G/A snv
CUI: C0243050
Disease: Cardiovascular Abnormalities
Cardiovascular Abnormalities 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2003 2003
dbSNP: rs1332629192
rs1332629192 		0.851 0.200 4 73404374 missense variant C/T snv
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		Cardiovascular Diseases 0.010 1.000 1 2009 2009
dbSNP: rs1241977606
rs1241977606 		0.925 0.080 4 73416326 missense variant A/G snv 4.0E-06
CUI: C3874381
Disease: Childhood nephrotic syndrome
Childhood nephrotic syndrome 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2006 2006
dbSNP: rs1162592300
rs1162592300 		0.925 0.080 4 73412045 missense variant G/A snv
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 2003 2003
dbSNP: rs370819889
rs370819889 		0.925 0.080 4 73416353 missense variant C/A;T snv 8.0E-06; 9.6E-05
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 2001 2001
dbSNP: rs534536101
rs534536101 		0.925 0.080 4 73408738 synonymous variant T/C snv 1.6E-05 7.0E-06
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs1332629192
rs1332629192 		0.851 0.200 4 73404374 missense variant C/T snv
CUI: C0011847
Disease: Diabetes
Diabetes 		Endocrine System Diseases 0.010 < 0.001 1 2006 2006
dbSNP: rs1332629192
rs1332629192 		0.851 0.200 4 73404374 missense variant C/T snv
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 < 0.001 1 2006 2006
dbSNP: rs1332629192
rs1332629192 		0.851 0.200 4 73404374 missense variant C/T snv
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases 0.020 1.000 2 2007 2009
dbSNP: rs58624704
rs58624704 		0.925 0.200 4 73410325 missense variant G/A snv 8.0E-06 3.5E-05
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs1332629192
rs1332629192 		0.851 0.200 4 73404374 missense variant C/T snv
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 2006 2013
dbSNP: rs1332629192
rs1332629192 		0.851 0.200 4 73404374 missense variant C/T snv
CUI: C0011881
Disease: Diabetic Nephropathy
Diabetic Nephropathy 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.020 1.000 2 2007 2009
dbSNP: rs11538209
rs11538209 		1.000 0.120 4 73404356 missense variant T/C snv
CUI: C0011881
Disease: Diabetic Nephropathy
Diabetic Nephropathy 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.010 < 0.001 1 2001 2001
dbSNP: rs58624704
rs58624704 		0.925 0.200 4 73410325 missense variant G/A snv 8.0E-06 3.5E-05
CUI: C0011881
Disease: Diabetic Nephropathy
Diabetic Nephropathy 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs140421861
rs140421861 		1.000 0.120 4 73413512 synonymous variant C/T snv 1.1E-04 1.1E-04
CUI: C0011884
Disease: Diabetic Retinopathy
Diabetic Retinopathy 		Eye Diseases; Endocrine System Diseases; Cardiovascular Diseases 0.010 1.000 1 2009 2009
dbSNP: rs74821926
rs74821926 		1.000 0.160 4 73404398 missense variant G/A;C;T snv 1.2E-05; 8.0E-06
CUI: C4551623
Disease: EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 1
EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs1241977606
rs1241977606 		0.925 0.080 4 73416326 missense variant A/G snv 4.0E-06
CUI: C0017668
Disease: Focal glomerulosclerosis
Focal glomerulosclerosis 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2006 2006
dbSNP: rs11538209
rs11538209 		1.000 0.120 4 73404356 missense variant T/C snv
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.010 1.000 1 2008 2008