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rs72651646

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs72651646(A;A)
Make rs72651646(A;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position50191462
GeneCOL1A1
is asnp
is mentioned by
dbSNPrs72651646
ebirs72651646
HLIrs72651646
Exacrs72651646
Varsomers72651646
Maprs72651646
PheGenIrs72651646
hapmaprs72651646
1000 genomesrs72651646
hgdprs72651646
ensemblrs72651646
gopubmedrs72651646
geneviewrs72651646
scholarrs72651646
googlers72651646
pharmgkbrs72651646
gwascentralrs72651646
openSNPrs72651646
23andMers72651646
23andMe allrs72651646
SNP Nexus

SNPshotrs72651646
SNPdbers72651646
MSV3drs72651646
GWAS Ctlgrs72651646
Max Magnitude0
OMIM120150
Desc
Variant0029
Relatedalso
ClinVar
Risk rs72651646(A;A)
Alt rs72651646(A;A)
Reference rs72651646(G;G)
Significance Pathogenic
Disease Osteogenesis imperfecta
Variation info
Gene COL1A1
CLNDBN Osteogenesis imperfecta, recessive perinatal lethal
Reversed 1
HGVS NC_000017.10:g.48268823C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000018851.27,