rs587782338
From SNPedia
| Merged into | rs80338965 |
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (AGAC;AGAC) | 0 | common in clinvar |
| Make rs587782338(-;-) |
| Make rs587782338(-;CAGA) |
| Make rs587782338(CAGA;CAGA) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 18 |
| Position | 51067124 |
| Gene | SMAD4 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs587782338 |
| dbSNP (classic) | rs587782338 |
| ClinGen | rs587782338 |
| ebi | rs587782338 |
| HLI | rs587782338 |
| Exac | rs587782338 |
| Gnomad | rs587782338 |
| Varsome | rs587782338 |
| LitVar | rs587782338 |
| Map | rs587782338 |
| PheGenI | rs587782338 |
| Biobank | rs587782338 |
| 1000 genomes | rs587782338 |
| hgdp | rs587782338 |
| ensembl | rs587782338 |
| geneview | rs587782338 |
| scholar | rs587782338 |
| rs587782338 | |
| pharmgkb | rs587782338 |
| gwascentral | rs587782338 |
| openSNP | rs587782338 |
| 23andMe | rs587782338 |
| SNPshot | rs587782338 |
| SNPdbe | rs587782338 |
| MSV3d | rs587782338 |
| GWAS Ctlg | rs587782338 |
| Status | Merged into rs80338965 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | |
| Alt | |
| Reference | Rs587782338(AGAC;AGAC) |
| Significance | Pathogenic |
| Disease | Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome Hereditary cancer-predisposing syndrome Juvenile polyposis syndrome not provided |
| Variation | info |
| Gene | SMAD4 |
| CLNDBN | Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome Hereditary cancer-predisposing syndrome Juvenile polyposis syndrome not provided |
| Reversed | 0 |
| HGVS | NC_000018.9:g.48593494_48593497delCAGA |
| CLNSRC | |
| CLNACC | RCV000021727.1, RCV000131266.4, RCV000205495.1, RCV000254690.1, |
