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rs72653143

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs72653143(G;T)
Make rs72653143(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position50189867
GeneCOL1A1
is asnp
is mentioned by
dbSNPrs72653143
ebirs72653143
HLIrs72653143
Exacrs72653143
Varsomers72653143
Maprs72653143
PheGenIrs72653143
hapmaprs72653143
1000 genomesrs72653143
hgdprs72653143
ensemblrs72653143
gopubmedrs72653143
geneviewrs72653143
scholarrs72653143
googlers72653143
pharmgkbrs72653143
gwascentralrs72653143
openSNPrs72653143
23andMers72653143
23andMe allrs72653143
SNP Nexus

SNPshotrs72653143
SNPdbers72653143
MSV3drs72653143
GWAS Ctlgrs72653143
Max Magnitude0
OMIM120150
Desc
Variant0009
Relatedalso


ClinVar
Risk rs72653143(T;T)
Alt rs72653143(T;T)
Reference rs72653143(G;G)
Significance Pathogenic
Disease Osteogenesis imperfecta
Variation info
Gene COL1A1
CLNDBN Osteogenesis imperfecta, recessive perinatal lethal
Reversed 1
HGVS NC_000017.10:g.48267228C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000018833.27,