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rs193922144

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs193922144(C;T)
Make rs193922144(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position50191853
GeneCOL1A1
is asnp
is mentioned by
dbSNPrs193922144
ebirs193922144
HLIrs193922144
Exacrs193922144
Varsomers193922144
Maprs193922144
PheGenIrs193922144
hapmaprs193922144
1000 genomesrs193922144
hgdprs193922144
ensemblrs193922144
gopubmedrs193922144
geneviewrs193922144
scholarrs193922144
googlers193922144
pharmgkbrs193922144
gwascentralrs193922144
openSNPrs193922144
23andMers193922144
23andMe allrs193922144
SNP Nexus

SNPshotrs193922144
SNPdbers193922144
MSV3drs193922144
GWAS Ctlgrs193922144
Max Magnitude0
ClinVar
Risk rs193922144(T;T)
Alt rs193922144(T;T)
Reference rs193922144(C;C)
Significance Probable-Pathogenic
Disease Osteogenesis imperfecta
Variation info
Gene COL1A1
CLNDBN Osteogenesis imperfecta
Reversed 1
HGVS NC_000017.10:g.48269214G>A
CLNSRC ClinVar
CLNACC RCV000029562.1,