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

rs72653172

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs72653172(A;A)
Make rs72653172(A;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position50188768
GeneCOL1A1
is asnp
is mentioned by
dbSNPrs72653172
ebirs72653172
HLIrs72653172
Exacrs72653172
Varsomers72653172
Maprs72653172
PheGenIrs72653172
hapmaprs72653172
1000 genomesrs72653172
hgdprs72653172
ensemblrs72653172
gopubmedrs72653172
geneviewrs72653172
scholarrs72653172
googlers72653172
pharmgkbrs72653172
gwascentralrs72653172
openSNPrs72653172
23andMers72653172
23andMe allrs72653172
SNP Nexus

SNPshotrs72653172
SNPdbers72653172
MSV3drs72653172
GWAS Ctlgrs72653172
Max Magnitude0
OMIM120150
Desc
Variant0014
Relatedalso


ClinVar
Risk rs72653172(A;A)
Alt rs72653172(A;A)
Reference rs72653172(G;G)
Significance Pathogenic
Disease Osteogenesis imperfecta
Variation info
Gene COL1A1
CLNDBN Osteogenesis imperfecta, recessive perinatal lethal
Reversed 1
HGVS NC_000017.10:g.48266129C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000018838.27,