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: 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
dbSNP: rs765243124
rs765243124 		0.827 0.160 10 104033953 frameshift variant CTCT/- delins 4.0E-06
CUI: C0406438
Disease: Pterygium of nail
Pterygium of nail 		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: C2047516
Disease: Hyperkeratotic papule
Hyperkeratotic papule 		0.700 0
dbSNP: rs765243124
rs765243124 		0.827 0.160 10 104033953 frameshift variant CTCT/- delins 4.0E-06
CUI: C2132198
Disease: Abnormal blistering of the skin
Abnormal blistering of the skin 		0.700 0
dbSNP: rs765243124
rs765243124 		0.827 0.160 10 104033953 frameshift variant CTCT/- delins 4.0E-06
CUI: C3277900
Disease: NAIL DISORDER, NONSYNDROMIC CONGENITAL, 4
NAIL DISORDER, NONSYNDROMIC CONGENITAL, 4 		0.700 0
dbSNP: rs765243124
rs765243124 		0.827 0.160 10 104033953 frameshift variant CTCT/- delins 4.0E-06
CUI: C4021157
Disease: Generalized abnormality of skin
Generalized abnormality of skin 		0.700 0
dbSNP: rs765243124
rs765243124 		0.827 0.160 10 104033953 frameshift variant CTCT/- delins 4.0E-06
CUI: C0262444
Disease: Abnormality of the dentition
Abnormality of the dentition 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases 0.700 0
dbSNP: rs765243124
rs765243124 		0.827 0.160 10 104033953 frameshift variant CTCT/- delins 4.0E-06
CUI: C1866510
Disease: Discolored lateral incisors
Discolored lateral incisors 		0.700 0
dbSNP: rs765243124
rs765243124 		0.827 0.160 10 104033953 frameshift variant CTCT/- delins 4.0E-06
CUI: C1856765
Disease: Irregular dentition
Irregular dentition 		0.700 0
dbSNP: rs765243124
rs765243124 		0.827 0.160 10 104033953 frameshift variant CTCT/- delins 4.0E-06
CUI: C0009806
Disease: Constipation
Constipation 		Pathological Conditions, Signs and Symptoms 0.700 0
dbSNP: rs765243124
rs765243124 		0.827 0.160 10 104033953 frameshift variant CTCT/- delins 4.0E-06
CUI: C0037268
Disease: Skin Abnormalities
Skin Abnormalities 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; 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: C1857042
Disease: Sparse scalp hair
Sparse scalp hair 		0.700 0
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: 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: 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: 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: 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: rs121912771
rs121912771 		0.882 0.080 10 104034193 missense variant C/T snv 1.1E-04 1.5E-04
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 1997 1997
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: 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