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rs193922145

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs193922145(C;T)
Make rs193922145(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position50191457
GeneCOL1A1
is asnp
is mentioned by
dbSNPrs193922145
ebirs193922145
HLIrs193922145
Exacrs193922145
Varsomers193922145
Maprs193922145
PheGenIrs193922145
hapmaprs193922145
1000 genomesrs193922145
hgdprs193922145
ensemblrs193922145
gopubmedrs193922145
geneviewrs193922145
scholarrs193922145
googlers193922145
pharmgkbrs193922145
gwascentralrs193922145
openSNPrs193922145
23andMers193922145
23andMe allrs193922145
SNP Nexus

SNPshotrs193922145
SNPdbers193922145
MSV3drs193922145
GWAS Ctlgrs193922145
Max Magnitude0
ClinVar
Risk rs193922145(T;T)
Alt rs193922145(T;T)
Reference rs193922145(C;C)
Significance Probable-Pathogenic
Disease Osteogenesis imperfecta
Variation info
Gene COL1A1
CLNDBN Osteogenesis imperfecta
Reversed 1
HGVS NC_000017.10:g.48268818G>A
CLNSRC ClinVar
CLNACC RCV000029563.1,