COL17A1, collagen type XVII alpha 1 chain, 1308

N. diseases: 138; N. variants: 28
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: rs121912773
rs121912773 		0.925 0.080 10 104053072 missense variant C/T 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 5 1996 2002
dbSNP: rs1478395810
rs1478395810 		1.000 0.080 10 104046775 splice acceptor variant T/C 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 0.700 1.000 3 1997 2009
dbSNP: rs775244527
rs775244527 		1.000 0.080 10 104036490 splice donor variant A/- del 2.5E-04
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 3 1999 2004
dbSNP: rs11191909
rs11191909 		1.000 0.080 10 104053243 intron variant C/T snv 0.15
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.700 1.000 1 2012 2012
dbSNP: rs121912773
rs121912773 		0.925 0.080 10 104053072 missense variant C/T snv
CUI: C0079301
Disease: Junctional Epidermolysis Bullosa
Junctional Epidermolysis Bullosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.010 1.000 1 2000 2000
dbSNP: rs1320448
rs1320448 		10 104086316 upstream gene variant A/G snv 0.92
CUI: C0018800
Disease: Cardiomegaly
Cardiomegaly 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.700 1.000 1 2011 2011
dbSNP: rs1320448
rs1320448 		10 104086316 upstream gene variant A/G snv 0.92
CUI: C1383860
Disease: Cardiac Hypertrophy
Cardiac Hypertrophy 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.700 1.000 1 2011 2011
dbSNP: rs1747677
rs1747677 		1.000 0.080 10 104055483 intron variant A/C snv 0.75
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.700 1.000 1 2012 2012
dbSNP: rs2274107
rs2274107 		1.000 0.080 10 104078945 intron variant G/A snv 0.14
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.700 1.000 1 2012 2012
dbSNP: rs61376250
rs61376250 		1.000 0.080 10 104055483 intron variant -/C;CAC;CACAC ins
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.700 1.000 1 2012 2012
dbSNP: rs805693
rs805693 		1.000 0.080 10 104055566 intron variant A/G;T snv
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.700 1.000 1 2012 2012
dbSNP: rs805694
rs805694 		1.000 0.080 10 104055696 intron variant G/A snv 0.74
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.700 1.000 1 2012 2012
dbSNP: rs9971100
rs9971100 		1.000 0.080 10 104066661 intron variant A/C snv 0.19
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.700 1.000 1 2012 2012
dbSNP: rs1064793760
rs1064793760 		1.000 0.080 10 104034179 frameshift variant T/- del
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 0
dbSNP: rs121912772
rs121912772 		1.000 0.080 10 104041526 stop gained A/C 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 0.700 0
dbSNP: rs797045084
rs797045084 		1.000 0.080 10 104043576 splice acceptor variant CCCTCTGAAAAC/- delins
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 0
dbSNP: rs797045142
rs797045142 		1.000 0.080 10 104039613 missense variant G/A snv
CUI: C1852551
Disease: Epithelial Recurrent Erosion Dystrophy
Epithelial Recurrent Erosion Dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.800 0
dbSNP: rs760094345
rs760094345 		1.000 0.080 10 104076418 stop gained G/A;C snv 8.0E-06; 4.0E-06
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 0
dbSNP: rs121912774
rs121912774 		0.925 0.080 10 104072062 stop gained G/A snv 4.0E-06
CUI: C0079301
Disease: Junctional Epidermolysis Bullosa
Junctional Epidermolysis Bullosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.010 1.000 1 2000 2000
dbSNP: rs121912774
rs121912774 		0.925 0.080 10 104072062 stop gained G/A snv 4.0E-06
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 0
dbSNP: rs760714959
rs760714959 		0.925 0.080 10 104037688 synonymous variant G/A snv 4.0E-06 1.4E-05
CUI: C0010036
Disease: Corneal dystrophy
Corneal dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.020 1.000 2 2016 2018
dbSNP: rs760714959
rs760714959 		0.925 0.080 10 104037688 synonymous variant G/A snv 4.0E-06 1.4E-05
CUI: C1852551
Disease: Epithelial Recurrent Erosion Dystrophy
Epithelial Recurrent Erosion Dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.720 1.000 2 2015 2018
dbSNP: rs765243124
rs765243124 		0.827 0.160 10 104033953 frameshift variant CTCT/- delins 4.0E-06
CUI: C0221260
Disease: Dystrophia unguium
Dystrophia unguium 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs765243124
rs765243124 		0.827 0.160 10 104033953 frameshift variant CTCT/- delins 4.0E-06
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Mental Disorders 0.700 0
dbSNP: rs765243124
rs765243124 		0.827 0.160 10 104033953 frameshift variant CTCT/- delins 4.0E-06
CUI: C4023528
Disease: Abnormality of skin morphology
Abnormality of skin morphology 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0