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rs193922137

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs193922137(G;T)
Make rs193922137(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position50195958
GeneCOL1A1
is asnp
is mentioned by
dbSNPrs193922137
ebirs193922137
HLIrs193922137
Exacrs193922137
Varsomers193922137
Maprs193922137
PheGenIrs193922137
hapmaprs193922137
1000 genomesrs193922137
hgdprs193922137
ensemblrs193922137
gopubmedrs193922137
geneviewrs193922137
scholarrs193922137
googlers193922137
pharmgkbrs193922137
gwascentralrs193922137
openSNPrs193922137
23andMers193922137
23andMe allrs193922137
SNP Nexus

SNPshotrs193922137
SNPdbers193922137
MSV3drs193922137
GWAS Ctlgrs193922137
Max Magnitude0
ClinVar
Risk rs193922137(T;T)
Alt rs193922137(T;T)
Reference rs193922137(G;G)
Significance Probable-Pathogenic
Disease Osteogenesis imperfecta
Variation info
Gene COL1A1
CLNDBN Osteogenesis imperfecta
Reversed 1
HGVS NC_000017.10:g.48273319C>A
CLNSRC ClinVar LabCorp
CLNACC RCV000029551.1,