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rs72656303

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs72656303(G;T)
Make rs72656303(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position50188113
GeneCOL1A1
is asnp
is mentioned by
dbSNPrs72656303
ebirs72656303
HLIrs72656303
Exacrs72656303
Varsomers72656303
Maprs72656303
PheGenIrs72656303
hapmaprs72656303
1000 genomesrs72656303
hgdprs72656303
ensemblrs72656303
gopubmedrs72656303
geneviewrs72656303
scholarrs72656303
googlers72656303
pharmgkbrs72656303
gwascentralrs72656303
openSNPrs72656303
23andMers72656303
23andMe allrs72656303
SNP Nexus

SNPshotrs72656303
SNPdbers72656303
MSV3drs72656303
GWAS Ctlgrs72656303
Max Magnitude0
OMIM120150
Desc
Variant0016
Relatedalso


ClinVar
Risk rs72656303(T;T)
Alt rs72656303(T;T)
Reference rs72656303(G;G)
Significance Pathogenic
Disease Osteogenesis imperfecta
Variation info
Gene COL1A1
CLNDBN Osteogenesis imperfecta, recessive perinatal lethal
Reversed 1
HGVS NC_000017.10:g.48265474C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000018840.27,