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rs193922158

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs193922158(A;G)
Make rs193922158(G;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position50197065
GeneCOL1A1
is asnp
is mentioned by
dbSNPrs193922158
ebirs193922158
HLIrs193922158
Exacrs193922158
Varsomers193922158
Maprs193922158
PheGenIrs193922158
hapmaprs193922158
1000 genomesrs193922158
hgdprs193922158
ensemblrs193922158
gopubmedrs193922158
geneviewrs193922158
scholarrs193922158
googlers193922158
pharmgkbrs193922158
gwascentralrs193922158
openSNPrs193922158
23andMers193922158
23andMe allrs193922158
SNP Nexus

SNPshotrs193922158
SNPdbers193922158
MSV3drs193922158
GWAS Ctlgrs193922158
Max Magnitude0
ClinVar
Risk rs193922158(G;G)
Alt rs193922158(G;G)
Reference rs193922158(A;A)
Significance Probable-Pathogenic
Disease Osteogenesis imperfecta
Variation info
Gene COL1A1
CLNDBN Osteogenesis imperfecta
Reversed 1
HGVS NC_000017.10:g.48274426T>C
CLNSRC ClinVar
CLNACC RCV000029583.1,