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rs72651651

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs72651651(A;A)
Make rs72651651(A;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position50191408
GeneCOL1A1
is asnp
is mentioned by
dbSNPrs72651651
ebirs72651651
HLIrs72651651
Exacrs72651651
Varsomers72651651
Maprs72651651
PheGenIrs72651651
hapmaprs72651651
1000 genomesrs72651651
hgdprs72651651
ensemblrs72651651
gopubmedrs72651651
geneviewrs72651651
scholarrs72651651
googlers72651651
pharmgkbrs72651651
gwascentralrs72651651
openSNPrs72651651
23andMers72651651
23andMe allrs72651651
SNP Nexus

SNPshotrs72651651
SNPdbers72651651
MSV3drs72651651
GWAS Ctlgrs72651651
Max Magnitude0
OMIM120150
Desc
Variant0006
Relatedalso
ClinVar
Risk rs72651651(A;A)
Alt rs72651651(A;A)
Reference rs72651651(G;G)
Significance Pathogenic
Disease Osteogenesis imperfecta
Variation info
Gene COL1A1
CLNDBN Osteogenesis imperfecta, recessive perinatal lethal
Reversed 1
HGVS NC_000017.10:g.48268769C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000018830.22,