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rs193922147

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs193922147(C;C)
Make rs193922147(C;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position50190381
GeneCOL1A1
is asnp
is mentioned by
dbSNPrs193922147
ebirs193922147
HLIrs193922147
Exacrs193922147
Varsomers193922147
Maprs193922147
PheGenIrs193922147
hapmaprs193922147
1000 genomesrs193922147
hgdprs193922147
ensemblrs193922147
gopubmedrs193922147
geneviewrs193922147
scholarrs193922147
googlers193922147
pharmgkbrs193922147
gwascentralrs193922147
openSNPrs193922147
23andMers193922147
23andMe allrs193922147
SNP Nexus

SNPshotrs193922147
SNPdbers193922147
MSV3drs193922147
GWAS Ctlgrs193922147
Max Magnitude0
ClinVar
Risk rs193922147(C,T;C,T)
Alt rs193922147(C,T;C,T)
Reference rs193922147(G;G)
Significance Probable-Pathogenic
Disease Osteogenesis imperfecta
Variation info
Gene COL1A1
CLNDBN Osteogenesis imperfecta
Reversed 1
HGVS NC_000017.10:g.48267742C>G
CLNSRC ClinVar
CLNACC RCV000029565.1,