Have questions? Visit https://www.reddit.com/r/SNPedia

rs397514672

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397514672(C;T)
Make rs397514672(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position50185866
GeneCOL1A1
is asnp
is mentioned by
dbSNPrs397514672
ebirs397514672
HLIrs397514672
Exacrs397514672
Varsomers397514672
Maprs397514672
PheGenIrs397514672
hapmaprs397514672
1000 genomesrs397514672
hgdprs397514672
ensemblrs397514672
gopubmedrs397514672
geneviewrs397514672
scholarrs397514672
googlers397514672
pharmgkbrs397514672
gwascentralrs397514672
openSNPrs397514672
23andMers397514672
23andMe allrs397514672
SNP Nexus

SNPshotrs397514672
SNPdbers397514672
MSV3drs397514672
GWAS Ctlgrs397514672
Max Magnitude0
ClinVar
Risk rs397514672(T;T)
Alt rs397514672(T;T)
Reference rs397514672(C;C)
Significance Pathogenic
Disease Osteogenesis imperfecta
Variation info
Gene COL1A1
CLNDBN Osteogenesis imperfecta, recessive perinatal lethal
Reversed 1
HGVS NC_000017.10:g.48263227G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000034355.28,