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rs42524

From SNPedia

Orientationplus
Stabilizedplus
Make rs42524(C;C)
Make rs42524(C;G)
Make rs42524(G;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position94413927
GeneCOL1A2
is asnp
is mentioned by
dbSNPrs42524
ebirs42524
HLIrs42524
Exacrs42524
Varsomers42524
Maprs42524
PheGenIrs42524
hapmaprs42524
1000 genomesrs42524
hgdprs42524
ensemblrs42524
gopubmedrs42524
geneviewrs42524
scholarrs42524
googlers42524
pharmgkbrs42524
gwascentralrs42524
openSNPrs42524
23andMers42524
23andMe allrs42524
SNP Nexus

SNPshotrs42524
SNPdbers42524
MSV3drs42524
GWAS Ctlgrs42524
GMAF0.1474
Max Magnitude
? (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]


Venter snp
Source plos
Gene COL1A2
allele G
frequency 0.758
sift TOLERATED
HuRef 1103652647056
Disease Association Defects in COL1A2 are a cause of osteogenesis imperfecta type IV (OI-IV) (MIM:166220); also known as osteogenesis imperfecta with normal sclerae. OI-IV presents with moderate to mild deformity and variable short stature. Dentinogenesis imperfecta is common and hearing loss occurs in some.



[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 21602843OA-icon.png] No association between polymorphisms and haplotypes of COL1A1 and COL1A2 genes and osteoporotic fracture in postmenopausal Chinese women


[PMID 16361613OA-icon.png] The collagen 1A2 polymorphism rs42524, which is associated with intracranial aneurysms, shows no association with spontaneous cervical artery dissection (sCAD).


[PMID 18996919OA-icon.png] Mutation and polymorphism spectrum in osteogenesis imperfecta type II: implications for genotype-phenotype relationships.


[PMID 20140262OA-icon.png] 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


GET Evidence
COL1A2-P549A
aa_change Pro549Ala
aa_change_short P549A
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.797732
summary



[PMID 23800505] Associations of Collagen Type I α2 Polymorphisms with the Presence of Intracranial Aneurysms in Patients from Germany