ITGB4, integrin subunit beta 4, 3691

N. diseases: 171; N. variants: 29
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: rs820164
rs820164 		17 75719444 upstream gene variant C/T snv 0.95
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 1 2012 2012
dbSNP: rs820164
rs820164 		17 75719444 upstream gene variant C/T snv 0.95
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs758551913
rs758551913 		1.000 0.080 17 75742580 splice acceptor variant A/G snv 4.0E-06
CUI: C0432317
Disease: Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex, Ogna type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs794726676
rs794726676 		1.000 0.080 17 75755759 frameshift variant G/- delins
CUI: C1856934
Disease: Epidermolysis bullosa with pyloric atresia
Epidermolysis bullosa with pyloric atresia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs762236241
rs762236241 		0.882 0.080 17 75757312 splice donor variant T/C snv 2.0E-05
CUI: C0268374
Disease: Adult junctional epidermolysis bullosa (disorder)
Adult junctional epidermolysis bullosa (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 1.000 2 1999 2002
dbSNP: rs762236241
rs762236241 		0.882 0.080 17 75757312 splice donor variant T/C snv 2.0E-05
CUI: C1856934
Disease: Epidermolysis bullosa with pyloric atresia
Epidermolysis bullosa with pyloric atresia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 1.000 2 1999 2002
dbSNP: rs762236241
rs762236241 		0.882 0.080 17 75757312 splice donor variant T/C snv 2.0E-05
CUI: C0080333
Disease: Weber-Cockayne Syndrome
Weber-Cockayne Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 1.000 2 1999 2002
dbSNP: rs147222357
rs147222357 		1.000 0.080 17 75751112 splice donor variant G/A;T snv 8.0E-06; 4.0E-06
CUI: C1856934
Disease: Epidermolysis bullosa with pyloric atresia
Epidermolysis bullosa with pyloric atresia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs121912461
rs121912461 		1.000 0.080 17 75727853 missense variant T/C snv
CUI: C1856934
Disease: Epidermolysis bullosa with pyloric atresia
Epidermolysis bullosa with pyloric atresia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.810 1.000 7 1998 2001
dbSNP: rs121912463
rs121912463 		1.000 0.080 17 75736077 missense variant T/C snv 8.0E-06
CUI: C1856934
Disease: Epidermolysis bullosa with pyloric atresia
Epidermolysis bullosa with pyloric atresia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.800 1.000 7 1998 2001
dbSNP: rs121912465
rs121912465 		1.000 0.080 17 75727227 missense variant T/C snv
CUI: C1856934
Disease: Epidermolysis bullosa with pyloric atresia
Epidermolysis bullosa with pyloric atresia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.800 1.000 7 1998 2001
dbSNP: rs121912467
rs121912467 		1.000 0.080 17 75752221 missense variant C/A;T snv 4.0E-06
CUI: C1856934
Disease: Epidermolysis bullosa with pyloric atresia
Epidermolysis bullosa with pyloric atresia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.800 1.000 7 1998 2001
dbSNP: rs121912468
rs121912468 		1.000 0.080 17 75750992 missense variant G/A;T snv
CUI: C1856934
Disease: Epidermolysis bullosa with pyloric atresia
Epidermolysis bullosa with pyloric atresia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.800 1.000 7 1998 2001
dbSNP: rs1304888529
rs1304888529 		1.000 0.080 17 75730476 missense variant T/A snv 4.0E-06 7.0E-06
CUI: C1856934
Disease: Epidermolysis bullosa with pyloric atresia
Epidermolysis bullosa with pyloric atresia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 1.000 7 1998 2001
dbSNP: rs1422797135
rs1422797135 		1.000 0.080 17 75730349 missense variant C/T snv
CUI: C1856934
Disease: Epidermolysis bullosa with pyloric atresia
Epidermolysis bullosa with pyloric atresia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 1.000 7 1998 2001
dbSNP: rs201494421
rs201494421 		1.000 0.080 17 75730256 missense variant C/G;T snv 8.1E-06
CUI: C1856934
Disease: Epidermolysis bullosa with pyloric atresia
Epidermolysis bullosa with pyloric atresia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 1.000 7 1998 2001
dbSNP: rs80338755
rs80338755 		0.925 0.080 17 75727423 missense variant G/A snv 1.6E-05 7.0E-06
CUI: C1856934
Disease: Epidermolysis bullosa with pyloric atresia
Epidermolysis bullosa with pyloric atresia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.800 1.000 7 1998 2001
dbSNP: rs1184406839
rs1184406839 		1.000 0.120 17 75758085 missense variant C/G snv 4.1E-06
CUI: C0268155
Disease: Deficiency of galactokinase
Deficiency of galactokinase 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 6 1999 2004
dbSNP: rs754967473
rs754967473 		1.000 0.120 17 75758272 missense variant C/T snv 1.4E-05 4.2E-05
CUI: C0268155
Disease: Deficiency of galactokinase
Deficiency of galactokinase 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 6 1999 2004
dbSNP: rs121912466
rs121912466 		1.000 0.080 17 75742591 missense variant G/A snv
CUI: C0268374
Disease: Adult junctional epidermolysis bullosa (disorder)
Adult junctional epidermolysis bullosa (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.800 1.000 1 2000 2000
dbSNP: rs145976111
rs145976111 		0.882 0.080 17 75742728 missense variant C/T snv 2.9E-03 2.3E-03
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs145976111
rs145976111 		0.882 0.080 17 75742728 missense variant C/T snv 2.9E-03 2.3E-03
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma 		Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs145976111
rs145976111 		0.882 0.080 17 75742728 missense variant C/T snv 2.9E-03 2.3E-03
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		Neoplasms; Nervous System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs147480547
rs147480547 		0.882 0.080 17 75740047 missense variant G/A;T snv 1.1E-03; 4.0E-06
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs147480547
rs147480547 		0.882 0.080 17 75740047 missense variant G/A;T snv 1.1E-03; 4.0E-06
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		Neoplasms; Nervous System Diseases 0.010 1.000 1 2018 2018