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rs67368147

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs67368147(A;A)
Make rs67368147(A;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position50191805
GeneCOL1A1
is asnp
is mentioned by
dbSNPrs67368147
ebirs67368147
HLIrs67368147
Exacrs67368147
Varsomers67368147
Maprs67368147
PheGenIrs67368147
hapmaprs67368147
1000 genomesrs67368147
hgdprs67368147
ensemblrs67368147
gopubmedrs67368147
geneviewrs67368147
scholarrs67368147
googlers67368147
pharmgkbrs67368147
gwascentralrs67368147
openSNPrs67368147
23andMers67368147
23andMe allrs67368147
SNP Nexus

SNPshotrs67368147
SNPdbers67368147
MSV3drs67368147
GWAS Ctlgrs67368147
Max Magnitude0
OMIM120150
Desc
Variant0005
Relatedalso


ClinVar
Risk rs67368147(A,T;A,T)
Alt rs67368147(A,T;A,T)
Reference rs67368147(G;G)
Significance Pathogenic
Disease Osteogenesis imperfecta type III
Variation info
Gene COL1A1
CLNDBN Osteogenesis imperfecta type III
Reversed 1
HGVS NC_000017.10:g.48269166C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000018829.27,