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: 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: 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: 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: rs121912462
rs121912462 		1.000 0.080 17 75736053 stop gained 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 0.710 1.000 1 1998 1998
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: 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: 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: rs111033608
rs111033608 		1.000 0.120 17 75758091 stop gained G/A snv 3.7E-05 8.4E-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 1 2000 2000
dbSNP: rs371517491
rs371517491 		1.000 0.120 17 75758286 missense variant G/A snv 1.5E-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 1 1999 1999
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: rs1026685248
rs1026685248 		1.000 0.120 17 75758300 stop gained A/G;T snv 4.7E-06 7.0E-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 0
dbSNP: rs121912464
rs121912464 		1.000 0.080 17 75755785 stop gained G/A 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 0
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: rs1476568580
rs1476568580 		1.000 0.080 17 75730320 missense variant G/A snv 4.0E-06 3.5E-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 0
dbSNP: rs375690568
rs375690568 		1.000 0.120 17 75758281 missense variant C/T snv 9.2E-05 7.0E-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 0