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rs193922141

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs193922141(-;-)
Make rs193922141(-;A)
ReferenceGRCh38 38.1/141
Chromosome17
Position50194141
GeneCOL1A1
is asnp
is mentioned by
dbSNPrs193922141
ebirs193922141
HLIrs193922141
Exacrs193922141
Varsomers193922141
Maprs193922141
PheGenIrs193922141
hapmaprs193922141
1000 genomesrs193922141
hgdprs193922141
ensemblrs193922141
gopubmedrs193922141
geneviewrs193922141
scholarrs193922141
googlers193922141
pharmgkbrs193922141
gwascentralrs193922141
openSNPrs193922141
23andMers193922141
23andMe allrs193922141
SNP Nexus

SNPshotrs193922141
SNPdbers193922141
MSV3drs193922141
GWAS Ctlgrs193922141
Max Magnitude0
ClinVar
Risk rs193922141(;)
Alt rs193922141(;)
Reference rs193922141(A;A)
Significance Probable-Pathogenic
Disease Osteogenesis imperfecta
Variation info
Gene COL1A1
CLNDBN Osteogenesis imperfecta
Reversed 1
HGVS NC_000017.10:g.48271502delT
CLNSRC ClinVar LabCorp
CLNACC RCV000029558.1,