Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: rs67865220
rs67865220
COL1A2
A 0.800 CausalMutation CLINVAR

dbSNP: rs67865220
rs67865220
COL1A2
0.800 GeneticVariation UNIPROT

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: rs121912911
rs121912911
COL1A2
C 0.710 CausalMutation CLINVAR

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: 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: rs1800250
rs1800250
COL1A2
0.700 GeneticVariation UNIPROT

dbSNP: rs267606742
rs267606742
COL1A2
A 0.700 CausalMutation CLINVAR

dbSNP: rs66612022
rs66612022
COL1A2
A 0.700 CausalMutation CLINVAR

dbSNP: rs66619856
rs66619856
COL1A2
0.700 GeneticVariation UNIPROT

dbSNP: rs66773001
rs66773001
COL1A2
0.700 GeneticVariation UNIPROT Osteogenesis imperfecta: mosaicism and refinement of the genotype-phenotype map in OI type III. Mutations in brief no. 242. Online. 10408781

1999
dbSNP: rs66773001
rs66773001
COL1A2
0.700 GeneticVariation UNIPROT A novel G1006A substitution in the alpha 2(I) chain of type I collagen produces osteogenesis imperfecta type III. 7749416

1995
dbSNP: rs66773001
rs66773001
COL1A2
0.700 GeneticVariation UNIPROT Mutations in the COL1A2 gene of type I collagen that result in nonlethal forms of osteogenesis imperfecta. 8456807

1993
dbSNP: rs66773001
rs66773001
COL1A2
0.700 GeneticVariation UNIPROT Osteogenesis imperfecta: clinical, biochemical and molecular findings. 16879195

2006
dbSNP: rs66773001
rs66773001
COL1A2
0.700 GeneticVariation UNIPROT Genetic counselling on brittle grounds: recurring osteogenesis imperfecta due to parental mosaicism for a dominant mutation. 7720740

1995
dbSNP: rs66773001
rs66773001
COL1A2
0.700 GeneticVariation UNIPROT A Gly238Ser substitution in the alpha 2 chain of type I collagen results in osteogenesis imperfecta type III. 7860070

1995
dbSNP: rs66773001
rs66773001
COL1A2
0.700 GeneticVariation UNIPROT Direct sequencing of PCR products derived from cDNAs for the pro alpha 1 and pro alpha 2 chains of type I procollagen as a screening method to detect mutations in patients with osteogenesis imperfecta. 8829649

1996
dbSNP: rs66773001
rs66773001
COL1A2
0.700 GeneticVariation UNIPROT Gly802Asp substitution in the pro alpha 2(I) collagen chain in a family with recurrent osteogenesis imperfecta due to paternal mosaicism. 8800927

1996
dbSNP: rs66773001
rs66773001
COL1A2
0.700 GeneticVariation UNIPROT A Gly859Ser substitution in the triple helical domain of the alpha 2 chain of type I collagen resulting in osteogenesis imperfecta type III in two unrelated individuals. 8081394

1994
dbSNP: rs66773001
rs66773001
COL1A2
0.700 GeneticVariation UNIPROT Mutation analysis of COL1A1 and COL1A2 in patients diagnosed with osteogenesis imperfecta type I-IV. 16786509

2006