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rs72645353

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs72645353(G;T)
Make rs72645353(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position50196198
GeneCOL1A1
is asnp
is mentioned by
dbSNPrs72645353
ebirs72645353
HLIrs72645353
Exacrs72645353
Varsomers72645353
Maprs72645353
PheGenIrs72645353
hapmaprs72645353
1000 genomesrs72645353
hgdprs72645353
ensemblrs72645353
gopubmedrs72645353
geneviewrs72645353
scholarrs72645353
googlers72645353
pharmgkbrs72645353
gwascentralrs72645353
openSNPrs72645353
23andMers72645353
23andMe allrs72645353
SNP Nexus

SNPshotrs72645353
SNPdbers72645353
MSV3drs72645353
GWAS Ctlgrs72645353
Max Magnitude0
ClinVar
Risk rs72645353(T;T)
Alt rs72645353(T;T)
Reference rs72645353(G;G)
Significance Probable-Pathogenic
Disease Osteogenesis imperfecta type III
Variation info
Gene COL1A1
CLNDBN Osteogenesis imperfecta type III
Reversed 1
HGVS NC_000017.10:g.48273559C>T
CLNSRC
CLNACC RCV000174826.1,