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rs72656387

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs72656387(A;A)
Make rs72656387(A;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position94409367
GeneCOL1A2
is asnp
is mentioned by
dbSNPrs72656387
ebirs72656387
HLIrs72656387
Exacrs72656387
Varsomers72656387
Maprs72656387
PheGenIrs72656387
hapmaprs72656387
1000 genomesrs72656387
hgdprs72656387
ensemblrs72656387
gopubmedrs72656387
geneviewrs72656387
scholarrs72656387
googlers72656387
pharmgkbrs72656387
gwascentralrs72656387
openSNPrs72656387
23andMers72656387
23andMe allrs72656387
SNP Nexus

SNPshotrs72656387
SNPdbers72656387
MSV3drs72656387
GWAS Ctlgrs72656387
Max Magnitude0
ClinVar
Risk rs72656387(A;A)
Alt rs72656387(A;A)
Reference rs72656387(G;G)
Significance Pathogenic
Disease Osteogenesis imperfecta
Variation info
Gene COL1A2
CLNDBN Osteogenesis imperfecta
Reversed 0
HGVS NC_000007.13:g.94038679G>A
CLNSRC ClinVar LabCorp
CLNACC RCV000029613.1,



[PMID 17078022OA-icon.png] Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans.


[PMID 18311573] Evidence that abnormal high bone mineralization in growing children with osteogenesis imperfecta is not associated with specific collagen mutations.