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rs72656321

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs72656321(G;T)
Make rs72656321(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position50187094
GeneCOL1A1
is asnp
is mentioned by
dbSNPrs72656321
ebirs72656321
HLIrs72656321
Exacrs72656321
Varsomers72656321
Maprs72656321
PheGenIrs72656321
hapmaprs72656321
1000 genomesrs72656321
hgdprs72656321
ensemblrs72656321
gopubmedrs72656321
geneviewrs72656321
scholarrs72656321
googlers72656321
pharmgkbrs72656321
gwascentralrs72656321
openSNPrs72656321
23andMers72656321
23andMe allrs72656321
SNP Nexus

SNPshotrs72656321
SNPdbers72656321
MSV3drs72656321
GWAS Ctlgrs72656321
Max Magnitude0
OMIM120150
Desc
Variant0036
Relatedalso


ClinVar
Risk rs72656321(T;T)
Alt rs72656321(T;T)
Reference rs72656321(G;G)
Significance Pathogenic
Disease Osteogenesis imperfecta
Variation info
Gene COL1A1
CLNDBN Osteogenesis imperfecta, recessive perinatal lethal
Reversed 1
HGVS NC_000017.10:g.48264455C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000018859.24,