COL17A1, collagen type XVII alpha 1 chain, 1308

N. diseases: 138; N. variants: 28
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs117564807
rs117564807
Entrez Id: 1308
Gene Symbol: COL17A1
COL17A1
CUI: C0020538
Disease:
Hypertensive disease 		0.010 GeneticVariation BEFREE Multivariable logistic regression analysis with adjustment for age, sex and the prevalence of hypertension revealed that rs138533962 of STYK1 (P<1.0x10-23; odds ratio, 111.3) was significantly (P<2.60x10-4) associated with ICH and that rs117564807 of COL17A1 (P=0.0009; odds ratio, 2.23x10-8) was significantly (P<0.0010) associated with SAH. 28487959 2017
dbSNP: rs747301994
rs747301994
Entrez Id: 1308
Gene Symbol: COL17A1
COL17A1
CUI: C0002452
Disease:
Amelogenesis Imperfecta 		0.010 GeneticVariation BEFREE Using targeted next-generation sequencing, the authors identified a novel heterozygous nonsense mutation in COL17A1 (c.1873C>T, p.R625*) segregating with hypoplastic AI and a novel homozygous 8-bp deletion in C4orf26 (c.39_46del, p.Cys14Glyfs*18) segregating with hypomineralized-hypoplastic AI in this family. 27558265 2016
dbSNP: rs121912773
rs121912773
Entrez Id: 1308
Gene Symbol: COL17A1
COL17A1
CUI: C0079301
Disease:
Junctional Epidermolysis Bullosa 		0.010 GeneticVariation BEFREE The mutation occurred in a junctional epidermolysis bullosa patient who was compound heterozygous for the novel glycine substitution mutation G633D and the novel nonsense mutation R145X. 10951237 2000
dbSNP: rs121912774
rs121912774
Entrez Id: 1308
Gene Symbol: COL17A1
COL17A1
CUI: C0079301
Disease:
Junctional Epidermolysis Bullosa 		0.010 GeneticVariation BEFREE The mutation occurred in a junctional epidermolysis bullosa patient who was compound heterozygous for the novel glycine substitution mutation G633D and the novel nonsense mutation R145X. 10951237 2000
dbSNP: rs121912771
rs121912771
Entrez Id: 1308
Gene Symbol: COL17A1
COL17A1
CUI: C0079301
Disease:
Junctional Epidermolysis Bullosa 		0.010 GeneticVariation BEFREE All patients carried novel homozygous point mutations (Q1016X, R1226X, and R1303Q) in the COL17A1 gene encoding collagen XVII, a hemidesmosomal transmembrane component; and, therefore, not only GABEB but also the localisata JEB can be a collagen XVII disorder. 9199555 1997
dbSNP: rs760714959
rs760714959
Entrez Id: 1308
Gene Symbol: COL17A1
COL17A1
CUI: C0010036
Disease:
Corneal dystrophy 		0.020 GeneticVariation BEFREE Identification of the c.3156C>T mutation, previously identified in 5 of these 6 families, in the Thai family we report indicates conservation of the genetic basis of ERED across different races and underscores the importance of ophthalmologists around the globe being familiar with ERED, which has only recently become a recognized corneal dystrophy. 29708937 2018
dbSNP: rs760714959
rs760714959
Entrez Id: 1308
Gene Symbol: COL17A1
COL17A1
CUI: C0010036
Disease:
Corneal dystrophy 		0.020 GeneticVariation BEFREE The corneal dystrophy mapped to chromosome 10q23-q24 is associated with the c.3156C>T variant in COL17A1. 27309958 2016
dbSNP: rs11191909
rs11191909
Entrez Id: 1308
Gene Symbol: COL17A1
COL17A1
CUI: C0008312
Disease:
Primary biliary cirrhosis 		0.700 GeneticVariation GWASDB Genome-wide association study identifies TNFSF15 and POU2AF1 as susceptibility loci for primary biliary cirrhosis in the Japanese population. 23000144 2012
dbSNP: rs1747677
rs1747677
Entrez Id: 1308
Gene Symbol: COL17A1
COL17A1
CUI: C0008312
Disease:
Primary biliary cirrhosis 		0.700 GeneticVariation GWASDB Genome-wide association study identifies TNFSF15 and POU2AF1 as susceptibility loci for primary biliary cirrhosis in the Japanese population. 23000144 2012
dbSNP: rs2274107
rs2274107
Entrez Id: 1308
Gene Symbol: COL17A1
COL17A1
CUI: C0008312
Disease:
Primary biliary cirrhosis 		0.700 GeneticVariation GWASDB Genome-wide association study identifies TNFSF15 and POU2AF1 as susceptibility loci for primary biliary cirrhosis in the Japanese population. 23000144 2012
dbSNP: rs61376250
rs61376250
Entrez Id: 1308
Gene Symbol: COL17A1
COL17A1
CUI: C0008312
Disease:
Primary biliary cirrhosis 		0.700 GeneticVariation GWASDB Genome-wide association study identifies TNFSF15 and POU2AF1 as susceptibility loci for primary biliary cirrhosis in the Japanese population. 23000144 2012
dbSNP: rs805693
rs805693
Entrez Id: 1308
Gene Symbol: COL17A1
COL17A1
CUI: C0008312
Disease:
Primary biliary cirrhosis 		0.700 GeneticVariation GWASDB Genome-wide association study identifies TNFSF15 and POU2AF1 as susceptibility loci for primary biliary cirrhosis in the Japanese population. 23000144 2012
dbSNP: rs805694
rs805694
Entrez Id: 1308
Gene Symbol: COL17A1
COL17A1
CUI: C0008312
Disease:
Primary biliary cirrhosis 		0.700 GeneticVariation GWASDB Genome-wide association study identifies TNFSF15 and POU2AF1 as susceptibility loci for primary biliary cirrhosis in the Japanese population. 23000144 2012
dbSNP: rs805722
rs805722
Entrez Id: 1308
Gene Symbol: COL17A1
COL17A1
CUI: C0008312
Disease:
Primary biliary cirrhosis 		0.700 GeneticVariation GWASDB Genome-wide association study identifies TNFSF15 and POU2AF1 as susceptibility loci for primary biliary cirrhosis in the Japanese population. 23000144 2012
dbSNP: rs9971100
rs9971100
Entrez Id: 1308
Gene Symbol: COL17A1
COL17A1
CUI: C0008312
Disease:
Primary biliary cirrhosis 		0.700 GeneticVariation GWASDB Genome-wide association study identifies TNFSF15 and POU2AF1 as susceptibility loci for primary biliary cirrhosis in the Japanese population. 23000144 2012
dbSNP: rs1320448
rs1320448
Entrez Id: 1308
Gene Symbol: COL17A1
COL17A1
CUI: C1383860
Disease:
Cardiac Hypertrophy 		0.700 GeneticVariation GWASDB Hypertrophy-associated polymorphisms ascertained in a founder cohort applied to heart failure risk and mortality. 21348951 2011
dbSNP: rs1320448
rs1320448
Entrez Id: 1308
Gene Symbol: COL17A1
COL17A1
CUI: C0018800
Disease:
Cardiomegaly 		0.700 GeneticVariation GWASCAT Hypertrophy-associated polymorphisms ascertained in a founder cohort applied to heart failure risk and mortality. 21348951 2011
dbSNP: rs752317971
rs752317971
Entrez Id: 1308
Gene Symbol: COL17A1
COL17A1
CUI: C0268374
Disease:
Adult junctional epidermolysis bullosa (disorder) 		A 0.700 CausalMutation CLINVAR Molecular mechanisms of phenotypic variability in junctional epidermolysis bullosa. 21357940 2011
dbSNP: rs1478395810
rs1478395810
Entrez Id: 1308
Gene Symbol: COL17A1
COL17A1
CUI: C0268374
Disease:
Adult junctional epidermolysis bullosa (disorder) 		C 0.700 GeneticVariation CLINVAR Glycine substitution mutations cause intracellular accumulation of collagen XVII and affect its post-translational modifications. 19340010 2009
dbSNP: rs1478395810
rs1478395810
Entrez Id: 1308
Gene Symbol: COL17A1
COL17A1
CUI: C0268374
Disease:
Adult junctional epidermolysis bullosa (disorder) 		C 0.700 GeneticVariation CLINVAR Molecular mechanisms of junctional epidermolysis bullosa: Col 15 domain mutations decrease the thermal stability of collagen XVII. 16354180 2005
dbSNP: rs775244527
rs775244527
Entrez Id: 1308
Gene Symbol: COL17A1
COL17A1
CUI: C0268374
Disease:
Adult junctional epidermolysis bullosa (disorder) 		T 0.700 GeneticVariation CLINVAR A founder COL17A1 splice site mutation leading to generalized atrophic benign epidermolysis bullosa in an extended inbred Palestinian family from Israel. 14614394 2004
dbSNP: rs775196743
rs775196743
Entrez Id: 1308
Gene Symbol: COL17A1
COL17A1
CUI: C0268374
Disease:
Adult junctional epidermolysis bullosa (disorder) 		A 0.700 CausalMutation CLINVAR Prenatal diagnosis for epidermolysis bullosa: a study of 144 consecutive pregnancies at risk. 12813757 2003
dbSNP: rs121912771
rs121912771
Entrez Id: 1308
Gene Symbol: COL17A1
COL17A1
CUI: C0268374
Disease:
Adult junctional epidermolysis bullosa (disorder) 		0.700 GeneticVariation UNIPROT A novel homozygous point mutation in the COL17A1 gene in a Chinese family with generalized atrophic benign epidermolysis bullosa. 11912005 2002
dbSNP: rs775244527
rs775244527
Entrez Id: 1308
Gene Symbol: COL17A1
COL17A1
CUI: C0268374
Disease:
Adult junctional epidermolysis bullosa (disorder) 		T 0.700 GeneticVariation CLINVAR Truncated typeXVII collagen expression in a patient with non-herlitz junctional epidermolysis bullosa caused by a homozygous splice-site mutation. 11406649 2001
dbSNP: rs121912771
rs121912771
Entrez Id: 1308
Gene Symbol: COL17A1
COL17A1
CUI: C0268374
Disease:
Adult junctional epidermolysis bullosa (disorder) 		0.700 GeneticVariation UNIPROT Hemizygosity for a glycine substitution in collagen XVII: unfolding and degradation of the ectodomain. 10951237 2000