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

rs72651653

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs72651653(G;T)
Make rs72651653(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position50191390
GeneCOL1A1
is asnp
is mentioned by
dbSNPrs72651653
ebirs72651653
HLIrs72651653
Exacrs72651653
Varsomers72651653
Maprs72651653
PheGenIrs72651653
hapmaprs72651653
1000 genomesrs72651653
hgdprs72651653
ensemblrs72651653
gopubmedrs72651653
geneviewrs72651653
scholarrs72651653
googlers72651653
pharmgkbrs72651653
gwascentralrs72651653
openSNPrs72651653
23andMers72651653
23andMe allrs72651653
SNP Nexus

SNPshotrs72651653
SNPdbers72651653
MSV3drs72651653
GWAS Ctlgrs72651653
Max Magnitude0
OMIM120150
Desc
Variant0045
Relatedalso


ClinVar
Risk rs72651653(T;T)
Alt rs72651653(T;T)
Reference rs72651653(G;G)
Significance Pathogenic
Disease Osteogenesis imperfecta
Variation info
Gene COL1A1
CLNDBN Osteogenesis imperfecta, recessive perinatal lethal
Reversed 1
HGVS NC_000017.10:g.48268751C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000018868.27,