rs42524
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs42524(C;G) |
| Make rs42524(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 7 |
| Position | 94413927 |
| Gene | COL1A2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs42524 |
| dbSNP (classic) | rs42524 |
| ClinGen | rs42524 |
| ebi | rs42524 |
| HLI | rs42524 |
| Exac | rs42524 |
| Gnomad | rs42524 |
| Varsome | rs42524 |
| LitVar | rs42524 |
| Map | rs42524 |
| PheGenI | rs42524 |
| Biobank | rs42524 |
| 1000 genomes | rs42524 |
| hgdp | rs42524 |
| ensembl | rs42524 |
| geneview | rs42524 |
| scholar | rs42524 |
| rs42524 | |
| pharmgkb | rs42524 |
| gwascentral | rs42524 |
| openSNP | rs42524 |
| 23andMe | rs42524 |
| SNPshot | rs42524 |
| SNPdbe | rs42524 |
| MSV3d | rs42524 |
| GWAS Ctlg | rs42524 |
| GMAF | 0.1474 |
| Max Magnitude | 0 |
| ? | (C;C) (C;G) (G;G) | 28 |
|---|---|---|
|
| ||
rs42524 is a SNP in the COL1A2 gene.
This SNP has been associated with familial intracranial aneurysms (IA) in both Japanese and Chinese populations; in Chinese patients, the odds ratio is 2.579 (CI: 1.48-4.47).[PMID 19035720]
[PMID 19426706] Heterozygosity (but not homozygosity) for a Coding SNP in COL1A2 Confers a Lower BMD and an Increased Stroke Risk
[PMID 19559927] The role of collagen type I alpha2 polymorphisms: intracranial aneurysms in Koreans
[PMID 21602843
] No association between polymorphisms and haplotypes of COL1A1 and COL1A2 genes and osteoporotic fracture in postmenopausal Chinese women
[PMID 16361613] The collagen 1A2 polymorphism rs42524, which is associated with intracranial aneurysms, shows no association with spontaneous cervical artery dissection (sCAD).
[PMID 18996919] Mutation and polymorphism spectrum in osteogenesis imperfecta type II: implications for genotype-phenotype relationships.
[PMID 20140262] Maternal and fetal genetic associations of PTGER3 and PON1 with preterm birth.
[PMID 23036172] The rs42524 COL1A2 polymorphism is associated with primary intracerebral hemorrhage in a Chinese population
[PMID 23800505] Associations of Collagen Type I α2 Polymorphisms with the Presence of Intracranial Aneurysms in Patients from Germany
| ClinVar | |
|---|---|
| Risk | rs42524(A;A) rs42524(G;G) rs42524(T;T) |
| Alt | rs42524(A;A) rs42524(G;G) rs42524(T;T) |
| Reference | Rs42524(C;C) |
| Significance | Non-pathogenic |
| Disease | not specified Ehlers-Danlos syndrome Osteogenesis Imperfecta |
| Variation | info |
| Gene | COL1A2 |
| CLNDBN | not specified Ehlers-Danlos syndrome, procollagen proteinase deficient Osteogenesis Imperfecta, Dominant |
| Reversed | 0 |
| HGVS | NC_000007.13:g.94043239C>G |
| CLNSRC | |
| CLNACC | RCV000244604.2, RCV000269609.1, RCV000323983.1, |
[PMID 29086084] The association between collagen gene polymorphisms and intracranial aneurysms: a meta-analysis.
