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rs144751329

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs144751329(C;T)
Make rs144751329(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position50194380
GeneCOL1A1
is asnp
is mentioned by
dbSNPrs144751329
ebirs144751329
HLIrs144751329
Exacrs144751329
Varsomers144751329
Maprs144751329
PheGenIrs144751329
hapmaprs144751329
1000 genomesrs144751329
hgdprs144751329
ensemblrs144751329
gopubmedrs144751329
geneviewrs144751329
scholarrs144751329
googlers144751329
pharmgkbrs144751329
gwascentralrs144751329
openSNPrs144751329
23andMers144751329
23andMe allrs144751329
SNP Nexus

SNPshotrs144751329
SNPdbers144751329
MSV3drs144751329
GWAS Ctlgrs144751329
Max Magnitude0
ClinVar
Risk rs144751329(T;T)
Alt rs144751329(T;T)
Reference rs144751329(C;C)
Significance Probable-Pathogenic
Disease Osteogenesis imperfecta
Variation info
Gene COL1A1
CLNDBN Osteogenesis imperfecta
Reversed 0
HGVS NC_000017.10:g.48271741C>T
CLNSRC ClinVar LabCorp
CLNACC RCV000029557.1,