rs80338835
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs80338835(C;T) |
| Make rs80338835(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 22 |
| Position | 36282754 |
| Gene | MYH9 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs80338835 |
| dbSNP (classic) | rs80338835 |
| ClinGen | rs80338835 |
| ebi | rs80338835 |
| HLI | rs80338835 |
| Exac | rs80338835 |
| Gnomad | rs80338835 |
| Varsome | rs80338835 |
| LitVar | rs80338835 |
| Map | rs80338835 |
| PheGenI | rs80338835 |
| Biobank | rs80338835 |
| 1000 genomes | rs80338835 |
| hgdp | rs80338835 |
| ensembl | rs80338835 |
| geneview | rs80338835 |
| scholar | rs80338835 |
| rs80338835 | |
| pharmgkb | rs80338835 |
| gwascentral | rs80338835 |
| openSNP | rs80338835 |
| 23andMe | rs80338835 |
| SNPshot | rs80338835 |
| SNPdbe | rs80338835 |
| MSV3d | rs80338835 |
| GWAS Ctlg | rs80338835 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs80338835(T;T) |
| Alt | rs80338835(T;T) |
| Reference | Rs80338835(C;C) |
| Significance | Pathogenic |
| Disease | May-Hegglin anomaly Fechtner syndrome Sebastian syndrome MYH9 related disorders |
| Variation | info |
| Gene | MYH9 |
| CLNDBN | May-Hegglin anomaly Fechtner syndrome Sebastian syndrome MYH9 related disorders |
| Reversed | 1 |
| HGVS | NC_000022.10:g.36678800G>A |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000015116.26, RCV000015117.26, RCV000015118.26, RCV000032227.1, |
[PMID 10739770
] The gene for May-Hegglin anomaly localizes to a <1-Mb region on chromosome 22q12.3-13.1.
[PMID 10973259] Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. The May-Heggllin/Fechtner Syndrome Consortium.
[PMID 10973260] Mutation of MYH9, encoding non-muscle myosin heavy chain A, in May-Hegglin anomaly.
