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rs72656306

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs72656306(A;A)
Make rs72656306(A;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position50187974
GeneCOL1A1
is asnp
is mentioned by
dbSNPrs72656306
ebirs72656306
HLIrs72656306
Exacrs72656306
Varsomers72656306
Maprs72656306
PheGenIrs72656306
hapmaprs72656306
1000 genomesrs72656306
hgdprs72656306
ensemblrs72656306
gopubmedrs72656306
geneviewrs72656306
scholarrs72656306
googlers72656306
pharmgkbrs72656306
gwascentralrs72656306
openSNPrs72656306
23andMers72656306
23andMe allrs72656306
SNP Nexus

SNPshotrs72656306
SNPdbers72656306
MSV3drs72656306
GWAS Ctlgrs72656306
Max Magnitude0
OMIM120150
Desc
Variant0017
Relatedalso


ClinVar
Risk rs72656306(A;A)
Alt rs72656306(A;A)
Reference rs72656306(G;G)
Significance Pathogenic
Disease Osteogenesis imperfecta
Variation info
Gene COL1A1
CLNDBN Osteogenesis imperfecta, recessive perinatal lethal
Reversed 1
HGVS NC_000017.10:g.48265335C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000018841.26,