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rs66929517

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs66929517(C;C)
Make rs66929517(C;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position50190334
GeneCOL1A1
is asnp
is mentioned by
dbSNPrs66929517
ebirs66929517
HLIrs66929517
Exacrs66929517
Varsomers66929517
Maprs66929517
PheGenIrs66929517
hapmaprs66929517
1000 genomesrs66929517
hgdprs66929517
ensemblrs66929517
gopubmedrs66929517
geneviewrs66929517
scholarrs66929517
googlers66929517
pharmgkbrs66929517
gwascentralrs66929517
openSNPrs66929517
23andMers66929517
23andMe allrs66929517
SNP Nexus

SNPshotrs66929517
SNPdbers66929517
MSV3drs66929517
GWAS Ctlgrs66929517
Max Magnitude0
OMIM120150
Desc
Variant0032
Relatedalso


ClinVar
Risk rs66929517(C,T;C,T)
Alt rs66929517(C,T;C,T)
Reference rs66929517(G;G)
Significance Pathogenic
Disease Osteogenesis imperfecta
Variation info
Gene COL1A1
CLNDBN Osteogenesis imperfecta, recessive perinatal lethal
Reversed 1
HGVS NC_000017.10:g.48267695C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000018855.27,