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: rs77335374
rs77335374 		4 73411994 splice acceptor variant A/G;T snv
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: rs77449454
rs77449454 		4 73413444 frameshift variant -/A delins
CUI: C0878666
Disease: Analbuminemia
Analbuminemia 		0.700 0
dbSNP: rs79228041
rs79228041 		4 73419634 missense variant G/A snv
CUI: C4015752
Disease: ALBUMIN B PHENOTYPE
ALBUMIN B PHENOTYPE 		0.700 0
dbSNP: rs762334560
rs762334560 		1.000 0.080 4 73404391 missense variant T/C snv 8.0E-06 7.0E-06
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2018 2018
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: rs534536101
rs534536101 		0.925 0.080 4 73408738 synonymous variant T/C snv 1.6E-05 7.0E-06
CUI: C0023530
Disease: Leukopenia
Leukopenia 		Hemic and Lymphatic Diseases 0.010 1.000 1 2018 2018
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: 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: 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