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rs193922157

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs193922157(G;T)
Make rs193922157(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position50198459
GeneCOL1A1
is asnp
is mentioned by
dbSNPrs193922157
ebirs193922157
HLIrs193922157
Exacrs193922157
Varsomers193922157
Maprs193922157
PheGenIrs193922157
hapmaprs193922157
1000 genomesrs193922157
hgdprs193922157
ensemblrs193922157
gopubmedrs193922157
geneviewrs193922157
scholarrs193922157
googlers193922157
pharmgkbrs193922157
gwascentralrs193922157
openSNPrs193922157
23andMers193922157
23andMe allrs193922157
SNP Nexus

SNPshotrs193922157
SNPdbers193922157
MSV3drs193922157
GWAS Ctlgrs193922157
Max Magnitude0
ClinVar
Risk rs193922157(A,T;A,T)
Alt rs193922157(A,T;A,T)
Reference rs193922157(G;G)
Significance Probable-Pathogenic
Disease Osteogenesis imperfecta
Variation info
Gene COL1A1
CLNDBN Osteogenesis imperfecta
Reversed 1
HGVS NC_000017.10:g.48275820C>A
CLNSRC ClinVar
CLNACC RCV000029579.1,