Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912911
rs121912911
COL1A2
0.710 GeneticVariation BEFREE Arachnoid cyst and chronic subdural haematoma in a child with osteogenesis imperfecta type III resulting from the substitution of glycine 1006 by alanine in the pro alpha 2(I) chain of type I procollagen. 8728690

1996
dbSNP: rs1554200371
rs1554200371
TENT5A
0.010 GeneticVariation BEFREE Another homozygous variant, [p.Asp231Gly], also classed as deleterious, was detected in a patient with type III OI of consanguineous parents using homozygosity mapping and exome sequencing.FAM46A is a member of the superfamily of nucleotidyltransferase fold proteins but its exact function is presently unknown. 29358272

2018
dbSNP: rs72658125
rs72658125
COL1A2
0.010 GeneticVariation BEFREE These results suggest that increase in activity of prolidase can be associated with increase in intensity of collagen metabolism in type III OI patient with identified new G511S mutation. 12870654

2003
dbSNP: rs67865220
rs67865220
COL1A2
A 0.800 CausalMutation CLINVAR

dbSNP: rs72645357
rs72645357
COL1A1
T 0.800 CausalMutation CLINVAR

dbSNP: rs72651645
rs72651645
COL1A1
T 0.800 CausalMutation CLINVAR Genetic epidemiology, prevalence, and genotype-phenotype correlations in the Swedish population with osteogenesis imperfecta. 25944380

2015
dbSNP: rs72653178
rs72653178
COL1A1
T 0.800 CausalMutation CLINVAR Genetic epidemiology, prevalence, and genotype-phenotype correlations in the Swedish population with osteogenesis imperfecta. 25944380

2015
dbSNP: rs121912911
rs121912911
COL1A2
C 0.710 CausalMutation CLINVAR

dbSNP: rs1114167388
rs1114167388
COL1A1
G 0.700 CausalMutation CLINVAR Genetic epidemiology, prevalence, and genotype-phenotype correlations in the Swedish population with osteogenesis imperfecta. 25944380

2015
dbSNP: rs1114167390
rs1114167390
COL1A1
T 0.700 CausalMutation CLINVAR Genetic epidemiology, prevalence, and genotype-phenotype correlations in the Swedish population with osteogenesis imperfecta. 25944380

2015
dbSNP: rs1114167409
rs1114167409
COL1A1
T 0.700 CausalMutation CLINVAR Genetic epidemiology, prevalence, and genotype-phenotype correlations in the Swedish population with osteogenesis imperfecta. 25944380

2015
dbSNP: rs1114167412
rs1114167412
COL1A2
C 0.700 CausalMutation CLINVAR Genetic epidemiology, prevalence, and genotype-phenotype correlations in the Swedish population with osteogenesis imperfecta. 25944380

2015
dbSNP: rs1114167414
rs1114167414
COL1A2
A 0.700 CausalMutation CLINVAR Genetic epidemiology, prevalence, and genotype-phenotype correlations in the Swedish population with osteogenesis imperfecta. 25944380

2015
dbSNP: rs1114167415
rs1114167415
COL1A2
C 0.700 CausalMutation CLINVAR Genetic epidemiology, prevalence, and genotype-phenotype correlations in the Swedish population with osteogenesis imperfecta. 25944380

2015
dbSNP: rs1131692320
rs1131692320
COL1A1
T 0.700 CausalMutation CLINVAR

dbSNP: rs121912905
rs121912905
COL1A2
T 0.700 CausalMutation CLINVAR

dbSNP: rs121912907
rs121912907
COL1A2
T 0.700 CausalMutation CLINVAR

dbSNP: rs1554396283
rs1554396283
COL1A2
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1555574303
rs1555574303
COL1A1
G 0.700 GeneticVariation CLINVAR

dbSNP: rs267606742
rs267606742
COL1A2
A 0.700 CausalMutation CLINVAR

dbSNP: rs66490707
rs66490707
COL1A1
T 0.700 CausalMutation CLINVAR

dbSNP: rs66523073
rs66523073
COL1A1
T 0.700 CausalMutation CLINVAR

dbSNP: rs66555264
rs66555264
COL1A1
T 0.700 CausalMutation CLINVAR

dbSNP: rs66612022
rs66612022
COL1A2
A 0.700 CausalMutation CLINVAR

dbSNP: rs67368147
rs67368147
COL1A1
A 0.700 CausalMutation CLINVAR