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rs72656332

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs72656332(A;A)
Make rs72656332(A;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position50186895
GeneCOL1A1
is asnp
is mentioned by
dbSNPrs72656332
ebirs72656332
HLIrs72656332
Exacrs72656332
Varsomers72656332
Maprs72656332
PheGenIrs72656332
hapmaprs72656332
1000 genomesrs72656332
hgdprs72656332
ensemblrs72656332
gopubmedrs72656332
geneviewrs72656332
scholarrs72656332
googlers72656332
pharmgkbrs72656332
gwascentralrs72656332
openSNPrs72656332
23andMers72656332
23andMe allrs72656332
SNP Nexus

SNPshotrs72656332
SNPdbers72656332
MSV3drs72656332
GWAS Ctlgrs72656332
Max Magnitude0
OMIM120150
Desc
Variant0019
Relatedalso


ClinVar
Risk rs72656332(A;A)
Alt rs72656332(A;A)
Reference rs72656332(G;G)
Significance Pathogenic
Disease Osteogenesis imperfecta
Variation info
Gene COL1A1
CLNDBN Osteogenesis imperfecta, recessive perinatal lethal
Reversed 1
HGVS NC_000017.10:g.48264256C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000018843.26,