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rs193922153

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs193922153(C;T)
Make rs193922153(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position50189173
GeneCOL1A1
is asnp
is mentioned by
dbSNPrs193922153
ebirs193922153
HLIrs193922153
Exacrs193922153
Varsomers193922153
Maprs193922153
PheGenIrs193922153
hapmaprs193922153
1000 genomesrs193922153
hgdprs193922153
ensemblrs193922153
gopubmedrs193922153
geneviewrs193922153
scholarrs193922153
googlers193922153
pharmgkbrs193922153
gwascentralrs193922153
openSNPrs193922153
23andMers193922153
23andMe allrs193922153
SNP Nexus

SNPshotrs193922153
SNPdbers193922153
MSV3drs193922153
GWAS Ctlgrs193922153
Max Magnitude0
ClinVar
Risk rs193922153(T;T)
Alt rs193922153(T;T)
Reference rs193922153(C;C)
Significance Probable-Pathogenic
Disease Osteogenesis imperfecta
Variation info
Gene COL1A1
CLNDBN Osteogenesis imperfecta
Reversed 1
HGVS NC_000017.10:g.48266534G>A
CLNSRC ClinVar LabCorp
CLNACC RCV000029573.1,


[PMID 16786509] Mutation analysis of COL1A1 and COL1A2 in patients diagnosed with osteogenesis imperfecta type I-IV.