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rs786205219

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs786205219(A;G)
Make rs786205219(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome8
Position22177929
GeneBMP1
is asnp
is mentioned by
dbSNPrs786205219
dbSNP (classic)rs786205219
ClinGenrs786205219
ebirs786205219
HLIrs786205219
Exacrs786205219
Gnomadrs786205219
Varsomers786205219
LitVarrs786205219
Maprs786205219
PheGenIrs786205219
Biobankrs786205219
1000 genomesrs786205219
hgdprs786205219
ensemblrs786205219
geneviewrs786205219
scholarrs786205219
googlers786205219
pharmgkbrs786205219
gwascentralrs786205219
openSNPrs786205219
23andMers786205219
SNPshotrs786205219
SNPdbers786205219
MSV3drs786205219
GWAS Ctlgrs786205219
Max Magnitude0
ClinVar
Risk rs786205219(G;G)
Alt rs786205219(G;G)
Reference Rs786205219(A;A)
Significance Pathogenic
Disease Osteogenesis imperfecta
Variation info
Gene BMP1
CLNDBN Osteogenesis imperfecta, type xiii
Reversed 0
HGVS NC_000008.10:g.22035442A>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000170455.4,