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: 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: 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: rs121912771
rs121912771 		0.882 0.080 10 104034193 missense variant C/T snv 1.1E-04 1.5E-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 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: rs752317971
rs752317971 		1.000 0.080 10 104043852 stop gained C/A;G snv 8.0E-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 1.000 2 1997 2011
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: 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: rs775196743
rs775196743 		1.000 0.080 10 104080649 stop gained G/A snv 8.0E-06 1.4E-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 1 2003 2003
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: rs805722
rs805722 		1.000 0.080 10 104050642 missense variant T/A;C snv 8.0E-06; 0.78
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: rs1210666598
rs1210666598 		1.000 0.080 10 104034272 frameshift variant CAGGGGGTC/C;G delins 4.6E-06
CUI: C0079301
Disease: Junctional Epidermolysis Bullosa
Junctional Epidermolysis Bullosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs121912769
rs121912769 		0.925 0.080 10 104034711 stop gained G/A snv 2.1E-05 1.4E-05
CUI: C2608084
Disease: EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT (disorder)
EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs121912769
rs121912769 		0.925 0.080 10 104034711 stop gained G/A snv 2.1E-05 1.4E-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 0
dbSNP: rs121912770
rs121912770 		1.000 0.080 10 104038409 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: rs121912771
rs121912771 		0.882 0.080 10 104034193 missense variant C/T snv 1.1E-04 1.5E-04
CUI: C2608084
Disease: EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT (disorder)
EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT (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