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rs193922149

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs193922149(-;-)
Make rs193922149(-;C)
ReferenceGRCh38 38.1/141
Chromosome17
Position50190328
GeneCOL1A1
is asnp
is mentioned by
dbSNPrs193922149
ebirs193922149
HLIrs193922149
Exacrs193922149
Varsomers193922149
Maprs193922149
PheGenIrs193922149
hapmaprs193922149
1000 genomesrs193922149
hgdprs193922149
ensemblrs193922149
gopubmedrs193922149
geneviewrs193922149
scholarrs193922149
googlers193922149
pharmgkbrs193922149
gwascentralrs193922149
openSNPrs193922149
23andMers193922149
23andMe allrs193922149
SNP Nexus

SNPshotrs193922149
SNPdbers193922149
MSV3drs193922149
GWAS Ctlgrs193922149
Max Magnitude0
ClinVar
Risk rs193922149(;)
Alt rs193922149(;)
Reference rs193922149(C;C)
Significance Probable-Pathogenic
Disease Osteogenesis imperfecta
Variation info
Gene COL1A1
CLNDBN Osteogenesis imperfecta
Reversed 1
HGVS NC_000017.10:g.48267689delG
CLNSRC ClinVar LabCorp
CLNACC RCV000029567.1,