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rs139955975

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs139955975(C;T)
Make rs139955975(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position50195937
GeneCOL1A1
is asnp
is mentioned by
dbSNPrs139955975
ebirs139955975
HLIrs139955975
Exacrs139955975
Varsomers139955975
Maprs139955975
PheGenIrs139955975
hapmaprs139955975
1000 genomesrs139955975
hgdprs139955975
ensemblrs139955975
gopubmedrs139955975
geneviewrs139955975
scholarrs139955975
googlers139955975
pharmgkbrs139955975
gwascentralrs139955975
openSNPrs139955975
23andMers139955975
23andMe allrs139955975
SNP Nexus

SNPshotrs139955975
SNPdbers139955975
MSV3drs139955975
GWAS Ctlgrs139955975
Max Magnitude0
ClinVar
Risk rs139955975(T;T)
Alt rs139955975(T;T)
Reference rs139955975(C;C)
Significance Probable-Pathogenic
Disease Osteogenesis imperfecta
Variation info
Gene COL1A1
CLNDBN Osteogenesis imperfecta
Reversed 0
HGVS NC_000017.10:g.48273298C>T
CLNSRC ClinVar LabCorp
CLNACC RCV000029552.1,