rs786205220
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs786205220(G;T) |
Make rs786205220(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 8 |
Position | 22194174 |
Gene | BMP1 |
is a | snp |
is | mentioned by |
dbSNP | rs786205220 |
dbSNP (classic) | rs786205220 |
ClinGen | rs786205220 |
ebi | rs786205220 |
HLI | rs786205220 |
Exac | rs786205220 |
Gnomad | rs786205220 |
Varsome | rs786205220 |
LitVar | rs786205220 |
Map | rs786205220 |
PheGenI | rs786205220 |
Biobank | rs786205220 |
1000 genomes | rs786205220 |
hgdp | rs786205220 |
ensembl | rs786205220 |
geneview | rs786205220 |
scholar | rs786205220 |
rs786205220 | |
pharmgkb | rs786205220 |
gwascentral | rs786205220 |
openSNP | rs786205220 |
23andMe | rs786205220 |
SNPshot | rs786205220 |
SNPdbe | rs786205220 |
MSV3d | rs786205220 |
GWAS Ctlg | rs786205220 |
Max Magnitude | 0 |
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, |