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rs398122891

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs398122891(C;G)
Make rs398122891(G;G)
ReferenceGRCh38 38.1/141
Chromosome8
Position22177868
GeneBMP1
is asnp
is mentioned by
dbSNPrs398122891
dbSNP (classic)rs398122891
ClinGenrs398122891
ebirs398122891
HLIrs398122891
Exacrs398122891
Gnomadrs398122891
Varsomers398122891
LitVarrs398122891
Maprs398122891
PheGenIrs398122891
Biobankrs398122891
1000 genomesrs398122891
hgdprs398122891
ensemblrs398122891
geneviewrs398122891
scholarrs398122891
googlers398122891
pharmgkbrs398122891
gwascentralrs398122891
openSNPrs398122891
23andMers398122891
SNPshotrs398122891
SNPdbers398122891
MSV3drs398122891
GWAS Ctlgrs398122891
Max Magnitude0
ClinVar
Risk rs398122891(G;G)
Alt rs398122891(G;G)
Reference Rs398122891(C;C)
Significance Pathogenic
Disease Osteogenesis imperfecta
Variation info
Gene BMP1
CLNDBN Osteogenesis imperfecta, type xiii
Reversed 0
HGVS NC_000008.10:g.22035381C>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000030846.29,