rs80338760
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs80338760(C;C) |
| Make rs80338760(C;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 17 |
| Position | 77320193 |
| Gene | SEPT9 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs80338760 |
| dbSNP (classic) | rs80338760 |
| ClinGen | rs80338760 |
| ebi | rs80338760 |
| HLI | rs80338760 |
| Exac | rs80338760 |
| Gnomad | rs80338760 |
| Varsome | rs80338760 |
| LitVar | rs80338760 |
| Map | rs80338760 |
| PheGenI | rs80338760 |
| Biobank | rs80338760 |
| 1000 genomes | rs80338760 |
| hgdp | rs80338760 |
| ensembl | rs80338760 |
| geneview | rs80338760 |
| scholar | rs80338760 |
| rs80338760 | |
| pharmgkb | rs80338760 |
| gwascentral | rs80338760 |
| openSNP | rs80338760 |
| 23andMe | rs80338760 |
| SNPshot | rs80338760 |
| SNPdbe | rs80338760 |
| MSV3d | rs80338760 |
| GWAS Ctlg | rs80338760 |
| Max Magnitude | 0 |
[PMID 27569544
] A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease. This SNP maps to a position listed in Table S6 as a non-coding variant that their biocurators felt was convincingly associated with a Mendelian disease.
| ClinVar | |
|---|---|
| Risk | rs80338760(C;C) |
| Alt | rs80338760(C;C) |
| Reference | Rs80338760(G;G) |
| Significance | Pathogenic |
| Disease | Amyotrophy |
| Variation | info |
| Gene | SEPT9 |
| CLNDBN | Amyotrophy, hereditary neuralgic |
| Reversed | 0 |
| HGVS | NC_000017.10:g.75316275G>C |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000006223.1, |
[PMID 16186812] Mutations in SEPT9 cause hereditary neuralgic amyotrophy.
