rs80338762
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs80338762(C;T) |
| Make rs80338762(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 17 |
| Position | 77402314 |
| Gene | SEPT9 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs80338762 |
| dbSNP (classic) | rs80338762 |
| ClinGen | rs80338762 |
| ebi | rs80338762 |
| HLI | rs80338762 |
| Exac | rs80338762 |
| Gnomad | rs80338762 |
| Varsome | rs80338762 |
| LitVar | rs80338762 |
| Map | rs80338762 |
| PheGenI | rs80338762 |
| Biobank | rs80338762 |
| 1000 genomes | rs80338762 |
| hgdp | rs80338762 |
| ensembl | rs80338762 |
| geneview | rs80338762 |
| scholar | rs80338762 |
| rs80338762 | |
| pharmgkb | rs80338762 |
| gwascentral | rs80338762 |
| openSNP | rs80338762 |
| 23andMe | rs80338762 |
| SNPshot | rs80338762 |
| SNPdbe | rs80338762 |
| MSV3d | rs80338762 |
| GWAS Ctlg | rs80338762 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs80338762(T;T) |
| Alt | rs80338762(T;T) |
| Reference | Rs80338762(C;C) |
| Significance | Pathogenic |
| Disease | Amyotrophy |
| Variation | info |
| Gene | SEPT9 |
| CLNDBN | Amyotrophy, hereditary neuralgic |
| Reversed | 0 |
| HGVS | NC_000017.10:g.75398396C>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000006222.1, |
[PMID 16186812] Mutations in SEPT9 cause hereditary neuralgic amyotrophy.
