Have questions? Visit https://www.reddit.com/r/SNPedia

rs193922143

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs193922143(-;-)
Make rs193922143(-;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position50193003
GeneCOL1A1
is asnp
is mentioned by
dbSNPrs193922143
ebirs193922143
HLIrs193922143
Exacrs193922143
Varsomers193922143
Maprs193922143
PheGenIrs193922143
hapmaprs193922143
1000 genomesrs193922143
hgdprs193922143
ensemblrs193922143
gopubmedrs193922143
geneviewrs193922143
scholarrs193922143
googlers193922143
pharmgkbrs193922143
gwascentralrs193922143
openSNPrs193922143
23andMers193922143
23andMe allrs193922143
SNP Nexus

SNPshotrs193922143
SNPdbers193922143
MSV3drs193922143
GWAS Ctlgrs193922143
Max Magnitude0
ClinVar
Risk rs193922143(;)
Alt rs193922143(;)
Reference rs193922143(T;T)
Significance Probable-Pathogenic
Disease Osteogenesis imperfecta
Variation info
Gene COL1A1
CLNDBN Osteogenesis imperfecta
Reversed 1
HGVS NC_000017.10:g.48270364delA
CLNSRC ClinVar LabCorp
CLNACC RCV000029560.1,