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rs786205220

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs786205220(G;T)
Make rs786205220(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome8
Position22194174
GeneBMP1
is asnp
is mentioned by
dbSNPrs786205220
dbSNP (classic)rs786205220
ClinGenrs786205220
ebirs786205220
HLIrs786205220
Exacrs786205220
Gnomadrs786205220
Varsomers786205220
LitVarrs786205220
Maprs786205220
PheGenIrs786205220
Biobankrs786205220
1000 genomesrs786205220
hgdprs786205220
ensemblrs786205220
geneviewrs786205220
scholarrs786205220
googlers786205220
pharmgkbrs786205220
gwascentralrs786205220
openSNPrs786205220
23andMers786205220
SNPshotrs786205220
SNPdbers786205220
MSV3drs786205220
GWAS Ctlgrs786205220
Max Magnitude0
ClinVar
Risk rs786205220(T;T)
Alt rs786205220(T;T)
Reference Rs786205220(G;G)
Significance Pathogenic
Disease Osteogenesis imperfecta
Variation info
Gene BMP1
CLNDBN Osteogenesis imperfecta, type xiii
Reversed 0
HGVS NC_000008.10:g.22051687G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000170456.4,