rs786205217
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs786205217(C;C) |
| Make rs786205217(C;T) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 8 |
| Position | 22201444 |
| Gene | BMP1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs786205217 |
| dbSNP (classic) | rs786205217 |
| ClinGen | rs786205217 |
| ebi | rs786205217 |
| HLI | rs786205217 |
| Exac | rs786205217 |
| Gnomad | rs786205217 |
| Varsome | rs786205217 |
| LitVar | rs786205217 |
| Map | rs786205217 |
| PheGenI | rs786205217 |
| Biobank | rs786205217 |
| 1000 genomes | rs786205217 |
| hgdp | rs786205217 |
| ensembl | rs786205217 |
| geneview | rs786205217 |
| scholar | rs786205217 |
| rs786205217 | |
| pharmgkb | rs786205217 |
| gwascentral | rs786205217 |
| openSNP | rs786205217 |
| 23andMe | rs786205217 |
| SNPshot | rs786205217 |
| SNPdbe | rs786205217 |
| MSV3d | rs786205217 |
| GWAS Ctlg | rs786205217 |
| Max Magnitude | 0 |
[PMID 27569544
] A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease. This SNP maps to a position listed in Table S6 as a non-coding variant that their biocurators felt was convincingly associated with a Mendelian disease.
| ClinVar | |
|---|---|
| Risk | rs786205217(C;C) |
| Alt | rs786205217(C;C) |
| Reference | Rs786205217(T;T) |
| Significance | Pathogenic |
| Disease | Osteogenesis imperfecta |
| Variation | info |
| Gene | BMP1 |
| CLNDBN | Osteogenesis imperfecta, type xiii |
| Reversed | 0 |
| HGVS | NC_000008.10:g.22058957T>C |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000170453.3, |
