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

rs193922154

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(AG;AG) 0 common in clinvar
Make rs193922154(-;-)
Make rs193922154(-;AG)
ReferenceGRCh38 38.1/141
Chromosome17
Position50199589
GeneCOL1A1
is asnp
is mentioned by
dbSNPrs193922154
ebirs193922154
HLIrs193922154
Exacrs193922154
Varsomers193922154
Maprs193922154
PheGenIrs193922154
hapmaprs193922154
1000 genomesrs193922154
hgdprs193922154
ensemblrs193922154
gopubmedrs193922154
geneviewrs193922154
scholarrs193922154
googlers193922154
pharmgkbrs193922154
gwascentralrs193922154
openSNPrs193922154
23andMers193922154
23andMe allrs193922154
SNP Nexus

SNPshotrs193922154
SNPdbers193922154
MSV3drs193922154
GWAS Ctlgrs193922154
Max Magnitude0
ClinVar
Risk rs193922154(;)
Alt rs193922154(;)
Reference rs193922154(AG;AG)
Significance Probable-Pathogenic
Disease Osteogenesis imperfecta
Variation info
Gene COL1A1
CLNDBN Osteogenesis imperfecta
Reversed 1
HGVS NC_000017.10:g.48276950_48276951delCT
CLNSRC ClinVar LabCorp
CLNACC RCV000029574.1,