Have questions? Visit https://www.reddit.com/r/SNPedia

rs66721653

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs66721653(A;A)
Make rs66721653(A;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position50195665
GeneCOL1A1
is asnp
is mentioned by
dbSNPrs66721653
ebirs66721653
HLIrs66721653
Exacrs66721653
Varsomers66721653
Maprs66721653
PheGenIrs66721653
hapmaprs66721653
1000 genomesrs66721653
hgdprs66721653
ensemblrs66721653
gopubmedrs66721653
geneviewrs66721653
scholarrs66721653
googlers66721653
pharmgkbrs66721653
gwascentralrs66721653
openSNPrs66721653
23andMers66721653
23andMe allrs66721653
SNP Nexus

SNPshotrs66721653
SNPdbers66721653
MSV3drs66721653
GWAS Ctlgrs66721653
Max Magnitude0
OMIM120150
Desc
Variant0003
Relatedalso


ClinVar
Risk rs66721653(A,T;A,T)
Alt rs66721653(A,T;A,T)
Reference rs66721653(G;G)
Significance Pathogenic
Disease Osteogenesis imperfecta with normal sclerae
Variation info
Gene COL1A1
CLNDBN Osteogenesis imperfecta with normal sclerae, dominant form
Reversed 1
HGVS NC_000017.10:g.48273026C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000018827.27,