Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs72645347
rs72645347
0.030 GeneticVariation BEFREE In addition, manifestations of classic EDS in Patient 1 [c.1053C>T; R134C (p.R312C); X-position] or osteopenia in Patients 2 [c.1839C>T; R396C (p.R574C); Y-position] and 3 [c.3396C>T; R915C (p.R1093C); Y-position] are seen. 17211858

2007

dbSNP: rs72645347
rs72645347
0.030 GeneticVariation BEFREE Delineation of Ehlers-Danlos syndrome phenotype due to the c.934C>T, p.(Arg312Cys) mutation in COL1A1: Report on a three-generation family without cardiovascular events, and literature review. 28102596

2017

dbSNP: rs72645347
rs72645347
0.030 GeneticVariation BEFREE The primary suspicion of vascular EDS with the unsatisfactory identification of a COL3A1 benign variant was secondarily readjusted with the identification of COL1A1 p.(Arg312Cys) variant. 31531849

2020

dbSNP: rs121912932
rs121912932
0.020 GeneticVariation BEFREE Indeed, indirect evidence supports our hypothesis: (1) the EDS phenotype in the compound heterozygous propositus is more severe than that of his affected daughter with the G1489E [correction] mutation only; (2) his unaffected daughter and mother with the G530S substitution present with thin skin and delayed wound healing; (3) as does the only control individual with the same substitution. 10602121

2000

dbSNP: rs121912932
rs121912932
0.020 GeneticVariation BEFREE Recently, we described a patient with severe classical EDS due to a Gly1489Glu substitution in the alpha1(V) triple-helical domain who was, in addition, heterozygous for a disease-modifying Gly530Ser substitution in the alpha1(V) NH(2)-terminal domain [Giunta and Steinmann, 2000: Am.J. Med.Genet. 11992482

2002

dbSNP: rs28937869
rs28937869
0.020 GeneticVariation BEFREE We have analyzed structural alterations of HS and their functional consequences in human beta4GalT-7 Arg270Cys mutant EDS and control fibroblasts. 18158310

2008

dbSNP: rs28937869
rs28937869
0.020 GeneticVariation BEFREE Three mutations of the B4GALT7 gene [encoding β1,4-GalT7 (β1,4-galactosyltransferase 7)], corresponding to A186D, L206P and R270C, have been identified in patients with the progeroid form of the Ehlers-Danlos syndrome and are described as being associated with the reduction or loss of β1,4-GalT7 activity. 20809901

2010

dbSNP: rs61735045
rs61735045
0.020 GeneticVariation BEFREE In the propositus, his unaffected daughter, and mother we identified a further newly recognized G530S substitution in the NH2-terminal domain, which did not cosegregate with the EDS phenotype and was found in only one of 51 unrelated control individuals. 10602121

2000

dbSNP: rs61735045
rs61735045
0.020 GeneticVariation BEFREE Recently, we described a patient with severe classical EDS due to a Gly1489Glu substitution in the alpha1(V) triple-helical domain who was, in addition, heterozygous for a disease-modifying Gly530Ser substitution in the alpha1(V) NH(2)-terminal domain [Giunta and Steinmann, 2000: Am.J. Med.Genet. 11992482

2002

dbSNP: rs72654799
rs72654799
0.020 GeneticVariation BEFREE Y-position cysteine substitution in type I collagen (alpha1(I) R888C/p.R1066C) is associated with osteogenesis imperfecta/Ehlers-Danlos syndrome phenotype. 17206620

2007

dbSNP: rs72654799
rs72654799
0.020 GeneticVariation BEFREE All three children are compound heterozygotes for COL1A1 mutations, with a novel frameshift mutation (c.2522delC; p.Pro841Leufs*266) from their mother and a known missense mutation (c.3196C>T; p.R1066C) from their clinically unaffected father, which has previously been described as causing a combined type I OI/EDS phenotype. 28436160

2017

dbSNP: rs1186920009
rs1186920009
0.010 GeneticVariation BEFREE All three children are compound heterozygotes for COL1A1 mutations, with a novel frameshift mutation (c.2522delC; p.Pro841Leufs*266) from their mother and a known missense mutation (c.3196C>T; p.R1066C) from their clinically unaffected father, which has previously been described as causing a combined type I OI/EDS phenotype. 28436160

2017

dbSNP: rs137853315
rs137853315
0.010 GeneticVariation BEFREE The findings suggest that the Ala128Val mutation causes the dual EDS-PNH phenotype. 15994863

2006

dbSNP: rs67682641
rs67682641
0.010 GeneticVariation BEFREE Recently, we described a patient with severe classical EDS due to a Gly1489Glu substitution in the alpha1(V) triple-helical domain who was, in addition, heterozygous for a disease-modifying Gly530Ser substitution in the alpha1(V) NH(2)-terminal domain [Giunta and Steinmann, 2000: Am.J. Med.Genet. 11992482

2002

dbSNP: rs72648365
rs72648365
0.010 GeneticVariation BEFREE In addition, manifestations of classic EDS in Patient 1 [c.1053C>T; R134C (p.R312C); X-position] or osteopenia in Patients 2 [c.1839C>T; R396C (p.R574C); Y-position] and 3 [c.3396C>T; R915C (p.R1093C); Y-position] are seen. 17211858

2007

dbSNP: rs72653170
rs72653170
0.010 GeneticVariation BEFREE Two arginine-to-cysteine substitutions in the alpha1(I)-collagen chain are associated with classic EDS [R134C (p.R312C)] or autosomal dominant Caffey disease with mild EDS features [R836C (p.R1014C)]. 17211858

2007

dbSNP: rs72656307
rs72656307
0.010 GeneticVariation BEFREE In addition, manifestations of classic EDS in Patient 1 [c.1053C>T; R134C (p.R312C); X-position] or osteopenia in Patients 2 [c.1839C>T; R396C (p.R574C); Y-position] and 3 [c.3396C>T; R915C (p.R1093C); Y-position] are seen. 17211858

2007

dbSNP: rs780400029
rs780400029
0.010 GeneticVariation BEFREE We identified a known <i>COL1A1</i> (encoding collagen type I α 1 chain) mutation (c.2010delT, p.Gly671Alafs*95) in all three patients (the proband, her brother, and her mother) in this family, but also a novel heterozygous <i>COL5A1</i> (encoding collagen type V α 1 chain) mutation (c.5335A>G, p.N1779D) in the region encoding the C-terminal propeptide domain in the proband and her mother, who both had the compound phenotype of OI and EDS. 31239369

2019

dbSNP: rs863223491
rs863223491
0.010 GeneticVariation BEFREE With the skin hyperextensibility, joint hypermobility, papyraceous scar revealed by physical examination, and the heterozygous pathogenic variant c1997G > A (p.P659P) in COL5A2 gene revealed by whole exome sequencing, the diagnosis of the classical Ehlers-Danlos syndrome was made. 31517854

2019

dbSNP: rs886440452
rs886440452
0.010 GeneticVariation BEFREE Y-position cysteine substitution in type I collagen (alpha1(I) R888C/p.R1066C) is associated with osteogenesis imperfecta/Ehlers-Danlos syndrome phenotype. 17206620

2007