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rs193922140

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs193922140(C;C)
Make rs193922140(C;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position50194419
GeneCOL1A1
is asnp
is mentioned by
dbSNPrs193922140
ebirs193922140
HLIrs193922140
Exacrs193922140
Varsomers193922140
Maprs193922140
PheGenIrs193922140
hapmaprs193922140
1000 genomesrs193922140
hgdprs193922140
ensemblrs193922140
gopubmedrs193922140
geneviewrs193922140
scholarrs193922140
googlers193922140
pharmgkbrs193922140
gwascentralrs193922140
openSNPrs193922140
23andMers193922140
23andMe allrs193922140
SNP Nexus

SNPshotrs193922140
SNPdbers193922140
MSV3drs193922140
GWAS Ctlgrs193922140
Max Magnitude0
ClinVar
Risk rs193922140(C;C)
Alt rs193922140(C;C)
Reference rs193922140(G;G)
Significance Probable-Pathogenic
Disease Osteogenesis imperfecta
Variation info
Gene COL1A1
CLNDBN Osteogenesis imperfecta
Reversed 1
HGVS NC_000017.10:g.48271780C>G
CLNSRC ClinVar LabCorp
CLNACC RCV000029556.1,