rs398122891
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs398122891(C;G) |
Make rs398122891(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 8 |
Position | 22177868 |
Gene | BMP1 |
is a | snp |
is | mentioned by |
dbSNP | rs398122891 |
dbSNP (classic) | rs398122891 |
ClinGen | rs398122891 |
ebi | rs398122891 |
HLI | rs398122891 |
Exac | rs398122891 |
Gnomad | rs398122891 |
Varsome | rs398122891 |
LitVar | rs398122891 |
Map | rs398122891 |
PheGenI | rs398122891 |
Biobank | rs398122891 |
1000 genomes | rs398122891 |
hgdp | rs398122891 |
ensembl | rs398122891 |
geneview | rs398122891 |
scholar | rs398122891 |
rs398122891 | |
pharmgkb | rs398122891 |
gwascentral | rs398122891 |
openSNP | rs398122891 |
23andMe | rs398122891 |
SNPshot | rs398122891 |
SNPdbe | rs398122891 |
MSV3d | rs398122891 |
GWAS Ctlg | rs398122891 |
Max Magnitude | 0 |
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, |