Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs72653170
rs72653170
A 0.850 CausalMutation CLINVAR

dbSNP: rs1555574303
rs1555574303
G 0.700 GeneticVariation CLINVAR

dbSNP: rs66490707
rs66490707
T 0.700 CausalMutation CLINVAR

dbSNP: rs66555264
rs66555264
T 0.700 CausalMutation CLINVAR

dbSNP: rs67879854
rs67879854
T 0.700 CausalMutation CLINVAR

dbSNP: rs72645357
rs72645357
T 0.700 CausalMutation CLINVAR

dbSNP: rs72648326
rs72648326
A 0.700 CausalMutation CLINVAR

dbSNP: rs72651642
rs72651642
A 0.700 CausalMutation CLINVAR

dbSNP: rs778598915
rs778598915
A 0.700 CausalMutation CLINVAR

dbSNP: rs72653170
rs72653170
0.850 GeneticVariation BEFREE A heterozygous missense mutation, c.3040C > T (p.R1014C), in the type I collagen alpha1 chain gene (COL1A1) was reported in families with the autosomal dominant form of ICH. 18704262

2008

dbSNP: rs72653170
rs72653170
0.850 GeneticVariation BEFREE A heterozygous mutation for a 3040C-->T in exon 41 of COL1A1 was found in affected individuals, further confirming the autosomal dominance of Caffey disease that is caused by this particular mutation. 17309652

2007

dbSNP: rs72653170
rs72653170
0.850 GeneticVariation UNIPROT A novel COL1A1 mutation in infantile cortical hyperostosis (Caffey disease) expands the spectrum of collagen-related disorders. 15864348

2005

dbSNP: rs72653170
rs72653170
0.850 GeneticVariation BEFREE The case being reported is a 7- month-old Indian boy with Caffey disease who was found to have the R1014C heterozygous mutation in the COL1A1 gene. 21249479

2011

dbSNP: rs72653170
rs72653170
0.850 GeneticVariation BEFREE The common heterozygous mutation of the COL1A1 gene, p.Arg1014Cys, has been reported in patients with Caffey disease. 24390061

2014

dbSNP: rs72645347
rs72645347
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: rs72653170
rs72653170
0.850 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