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rs193922151

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs193922151(-;-)
Make rs193922151(-;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position50189521
GeneCOL1A1
is asnp
is mentioned by
dbSNPrs193922151
ebirs193922151
HLIrs193922151
Exacrs193922151
Varsomers193922151
Maprs193922151
PheGenIrs193922151
hapmaprs193922151
1000 genomesrs193922151
hgdprs193922151
ensemblrs193922151
gopubmedrs193922151
geneviewrs193922151
scholarrs193922151
googlers193922151
pharmgkbrs193922151
gwascentralrs193922151
openSNPrs193922151
23andMers193922151
23andMe allrs193922151
SNP Nexus

SNPshotrs193922151
SNPdbers193922151
MSV3drs193922151
GWAS Ctlgrs193922151
Max Magnitude0
ClinVar
Risk rs193922151(;)
Alt rs193922151(;)
Reference rs193922151(T;T)
Significance Probable-Pathogenic
Disease Osteogenesis imperfecta
Variation info
Gene COL1A1
CLNDBN Osteogenesis imperfecta
Reversed 1
HGVS NC_000017.10:g.48266882delA
CLNSRC ClinVar LabCorp
CLNACC RCV000029571.1,