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

rs72645333

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs72645333(A;A)
Make rs72645333(A;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position50196651
GeneCOL1A1
is asnp
is mentioned by
dbSNPrs72645333
ebirs72645333
HLIrs72645333
Exacrs72645333
Varsomers72645333
Maprs72645333
PheGenIrs72645333
hapmaprs72645333
1000 genomesrs72645333
hgdprs72645333
ensemblrs72645333
gopubmedrs72645333
geneviewrs72645333
scholarrs72645333
googlers72645333
pharmgkbrs72645333
gwascentralrs72645333
openSNPrs72645333
23andMers72645333
23andMe allrs72645333
SNP Nexus

SNPshotrs72645333
SNPdbers72645333
MSV3drs72645333
GWAS Ctlgrs72645333
Max Magnitude0
OMIM120150
Desc
Variant0001
Relatedalso


ClinVar
Risk rs72645333(A;A)
Alt rs72645333(A;A)
Reference rs72645333(G;G)
Significance Pathogenic
Disease Osteogenesis imperfecta
Variation info
Gene COL1A1
CLNDBN Osteogenesis imperfecta, recessive perinatal lethal
Reversed 1
HGVS NC_000017.10:g.48274012C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000018825.26,