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rs193922148

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs193922148(-;-)
Make rs193922148(-;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position50190360
GeneCOL1A1
is asnp
is mentioned by
dbSNPrs193922148
ebirs193922148
HLIrs193922148
Exacrs193922148
Varsomers193922148
Maprs193922148
PheGenIrs193922148
hapmaprs193922148
1000 genomesrs193922148
hgdprs193922148
ensemblrs193922148
gopubmedrs193922148
geneviewrs193922148
scholarrs193922148
googlers193922148
pharmgkbrs193922148
gwascentralrs193922148
openSNPrs193922148
23andMers193922148
23andMe allrs193922148
SNP Nexus

SNPshotrs193922148
SNPdbers193922148
MSV3drs193922148
GWAS Ctlgrs193922148
Max Magnitude0
ClinVar
Risk rs193922148(;)
Alt rs193922148(;)
Reference rs193922148(T;T)
Significance Probable-Pathogenic
Disease Osteogenesis imperfecta
Variation info
Gene COL1A1
CLNDBN Osteogenesis imperfecta
Reversed 1
HGVS NC_000017.10:g.48267721delA
CLNSRC ClinVar LabCorp
CLNACC RCV000029566.1,