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rs193922150

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs193922150(A;A)
Make rs193922150(A;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position50189878
GeneCOL1A1
is asnp
is mentioned by
dbSNPrs193922150
ebirs193922150
HLIrs193922150
Exacrs193922150
Varsomers193922150
Maprs193922150
PheGenIrs193922150
hapmaprs193922150
1000 genomesrs193922150
hgdprs193922150
ensemblrs193922150
gopubmedrs193922150
geneviewrs193922150
scholarrs193922150
googlers193922150
pharmgkbrs193922150
gwascentralrs193922150
openSNPrs193922150
23andMers193922150
23andMe allrs193922150
SNP Nexus

SNPshotrs193922150
SNPdbers193922150
MSV3drs193922150
GWAS Ctlgrs193922150
Max Magnitude0
ClinVar
Risk rs193922150(A;A)
Alt rs193922150(A;A)
Reference rs193922150(G;G)
Significance Probable-Pathogenic
Disease Osteogenesis imperfecta
Variation info
Gene COL1A1
CLNDBN Osteogenesis imperfecta
Reversed 1
HGVS NC_000017.10:g.48267239C>T
CLNSRC ClinVar LabCorp
CLNACC RCV000029569.1,