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

rs72648333

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs72648333(G;T)
Make rs72648333(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position50195099
GeneCOL1A1
is asnp
is mentioned by
dbSNPrs72648333
ebirs72648333
HLIrs72648333
Exacrs72648333
Varsomers72648333
Maprs72648333
PheGenIrs72648333
hapmaprs72648333
1000 genomesrs72648333
hgdprs72648333
ensemblrs72648333
gopubmedrs72648333
geneviewrs72648333
scholarrs72648333
googlers72648333
pharmgkbrs72648333
gwascentralrs72648333
openSNPrs72648333
23andMers72648333
23andMe allrs72648333
SNP Nexus

SNPshotrs72648333
SNPdbers72648333
MSV3drs72648333
GWAS Ctlgrs72648333
Max Magnitude0
OMIM120150
Desc
Variant0037
Relatedalso


ClinVar
Risk rs72648333(T;T)
Alt rs72648333(T;T)
Reference rs72648333(G;G)
Significance Pathogenic
Disease Osteogenesis imperfecta
Variation info
Gene COL1A1
CLNDBN Osteogenesis imperfecta, recessive perinatal lethal
Reversed 1
HGVS NC_000017.10:g.48272460C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000018860.28,