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rs193922138

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs193922138(C;G)
Make rs193922138(G;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position50195296
GeneCOL1A1
is asnp
is mentioned by
dbSNPrs193922138
ebirs193922138
HLIrs193922138
Exacrs193922138
Varsomers193922138
Maprs193922138
PheGenIrs193922138
hapmaprs193922138
1000 genomesrs193922138
hgdprs193922138
ensemblrs193922138
gopubmedrs193922138
geneviewrs193922138
scholarrs193922138
googlers193922138
pharmgkbrs193922138
gwascentralrs193922138
openSNPrs193922138
23andMers193922138
23andMe allrs193922138
SNP Nexus

SNPshotrs193922138
SNPdbers193922138
MSV3drs193922138
GWAS Ctlgrs193922138
Max Magnitude0
ClinVar
Risk rs193922138(G;G)
Alt rs193922138(G;G)
Reference rs193922138(C;C)
Significance Probable-Pathogenic
Disease Osteogenesis imperfecta
Variation info
Gene COL1A1
CLNDBN Osteogenesis imperfecta
Reversed 1
HGVS NC_000017.10:g.48272657G>C
CLNSRC ClinVar LabCorp
CLNACC RCV000029554.1,