Gene: COL1A1 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057518930
rs1057518930
COL1A1
G 0.700 CausalMutation CLINVAR

dbSNP: rs66527965
rs66527965
COL1A1
T 0.700 CausalMutation CLINVAR

dbSNP: rs1473998316
rs1473998316
COL1A1
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: rs72645347
rs72645347
COL1A1
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: rs72648365
rs72648365
COL1A1
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: rs72656307
rs72656307
COL1A1
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