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rs878853274

From SNPedia

Orientationminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs878853274(-;-)
Make rs878853274(-;T)
ReferenceGRCh38.p2 38.2/147
Chromosome17
Position50189431
GeneCOL1A1
is asnp
is mentioned by
dbSNPrs878853274
ebirs878853274
HLIrs878853274
Exacrs878853274
Varsomers878853274
Maprs878853274
PheGenIrs878853274
hapmaprs878853274
1000 genomesrs878853274
hgdprs878853274
ensemblrs878853274
gopubmedrs878853274
geneviewrs878853274
scholarrs878853274
googlers878853274
pharmgkbrs878853274
gwascentralrs878853274
openSNPrs878853274
23andMers878853274
23andMe allrs878853274
SNP Nexus

SNPshotrs878853274
SNPdbers878853274
MSV3drs878853274
GWAS Ctlgrs878853274
Max Magnitude0
ClinVar
Risk rs878853274(;)
Alt rs878853274(;)
Reference rs878853274(T;T)
Significance Pathogenic
Disease Osteogenesis imperfecta type I
Variation info
Gene COL1A1
CLNDBN Osteogenesis imperfecta type I
Reversed 1
HGVS NC_000017.10:g.48266792delA
CLNSRC
CLNACC RCV000225140.1,