rs80338827
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs80338827(A;A) |
| Make rs80338827(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 22 |
| Position | 36305984 |
| Gene | MYH9 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs80338827 |
| dbSNP (classic) | rs80338827 |
| ClinGen | rs80338827 |
| ebi | rs80338827 |
| HLI | rs80338827 |
| Exac | rs80338827 |
| Gnomad | rs80338827 |
| Varsome | rs80338827 |
| LitVar | rs80338827 |
| Map | rs80338827 |
| PheGenI | rs80338827 |
| Biobank | rs80338827 |
| 1000 genomes | rs80338827 |
| hgdp | rs80338827 |
| ensembl | rs80338827 |
| geneview | rs80338827 |
| scholar | rs80338827 |
| rs80338827 | |
| pharmgkb | rs80338827 |
| gwascentral | rs80338827 |
| openSNP | rs80338827 |
| 23andMe | rs80338827 |
| SNPshot | rs80338827 |
| SNPdbe | rs80338827 |
| MSV3d | rs80338827 |
| GWAS Ctlg | rs80338827 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs80338827(A;A) |
| Alt | rs80338827(A;A) |
| Reference | Rs80338827(G;G) |
| Significance | Pathogenic |
| Disease | Fechtner syndrome Epstein syndrome MYH9 related disorders |
| Variation | info |
| Gene | MYH9 |
| CLNDBN | Fechtner syndrome Epstein syndrome MYH9 related disorders |
| Reversed | 1 |
| HGVS | NC_000022.10:g.36702030C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000015132.28, RCV000015133.28, RCV000032217.1, |
[PMID 11590545
] Nonmuscle myosin heavy chain IIA mutations define a spectrum of autosomal dominant macrothrombocytopenias: May-Hegglin anomaly and Fechtner, Sebastian, Epstein, and Alport-like syndromes.
[PMID 11935325] Epstein syndrome: another renal disorder with mutations in the nonmuscle myosin heavy chain 9 gene.
