rs377767332
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs377767332(C;T) |
| Make rs377767332(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 18 |
| Position | 51054864 |
| Gene | SMAD4 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs377767332 |
| dbSNP (classic) | rs377767332 |
| ClinGen | rs377767332 |
| ebi | rs377767332 |
| HLI | rs377767332 |
| Exac | rs377767332 |
| Gnomad | rs377767332 |
| Varsome | rs377767332 |
| LitVar | rs377767332 |
| Map | rs377767332 |
| PheGenI | rs377767332 |
| Biobank | rs377767332 |
| 1000 genomes | rs377767332 |
| hgdp | rs377767332 |
| ensembl | rs377767332 |
| geneview | rs377767332 |
| scholar | rs377767332 |
| rs377767332 | |
| pharmgkb | rs377767332 |
| gwascentral | rs377767332 |
| openSNP | rs377767332 |
| 23andMe | rs377767332 |
| SNPshot | rs377767332 |
| SNPdbe | rs377767332 |
| MSV3d | rs377767332 |
| GWAS Ctlg | rs377767332 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs377767332(T;T) |
| Alt | rs377767332(T;T) |
| Reference | Rs377767332(C;C) |
| Significance | Pathogenic |
| Disease | Juvenile polyposis syndrome |
| Variation | info |
| Gene | SMAD4 |
| CLNDBN | Juvenile polyposis syndrome |
| Reversed | 0 |
| HGVS | NC_000018.9:g.48581234C>T |
| CLNSRC | ARUP SMAD4 |
| CLNACC | RCV000021688.1, |
[PMID 11583957
] Comprehensive analysis of SMAD4 mutations and protein expression in juvenile polyposis: evidence for a distinct genetic pathway and polyp morphology in SMAD4 mutation carriers.
