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rs318240762

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs318240762(C;C)
Make rs318240762(C;G)
ReferenceGRCh38 38.1/141
Chromosome8
Position22165439
GeneBMP1
is asnp
is mentioned by
dbSNPrs318240762
ebirs318240762
HLIrs318240762
Exacrs318240762
Varsomers318240762
Maprs318240762
PheGenIrs318240762
hapmaprs318240762
1000 genomesrs318240762
hgdprs318240762
ensemblrs318240762
gopubmedrs318240762
geneviewrs318240762
scholarrs318240762
googlers318240762
pharmgkbrs318240762
gwascentralrs318240762
openSNPrs318240762
23andMers318240762
23andMe allrs318240762
SNP Nexus

SNPshotrs318240762
SNPdbers318240762
MSV3drs318240762
GWAS Ctlgrs318240762
Max Magnitude0
ClinVar
Risk rs318240762(C;C)
Alt rs318240762(C;C)
Reference rs318240762(G;G)
Significance Pathogenic
Disease Osteogenesis imperfecta not provided
Variation info
Gene BMP1
CLNDBN Osteogenesis imperfecta, type xiii not provided
Reversed 0
HGVS NC_000008.10:g.22022952G>C
CLNSRC OMIM Allelic Variant UniProtKB (variants)
CLNACC RCV000030847.24, RCV000059794.1,