rs119477052
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs119477052(A;A) |
| Make rs119477052(A;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 9 |
| Position | 77205394 |
| Gene | VPS13A |
| is a | snp |
| is | mentioned by |
| dbSNP | rs119477052 |
| dbSNP (classic) | rs119477052 |
| ClinGen | rs119477052 |
| ebi | rs119477052 |
| HLI | rs119477052 |
| Exac | rs119477052 |
| Gnomad | rs119477052 |
| Varsome | rs119477052 |
| LitVar | rs119477052 |
| Map | rs119477052 |
| PheGenI | rs119477052 |
| Biobank | rs119477052 |
| 1000 genomes | rs119477052 |
| hgdp | rs119477052 |
| ensembl | rs119477052 |
| geneview | rs119477052 |
| scholar | rs119477052 |
| rs119477052 | |
| pharmgkb | rs119477052 |
| gwascentral | rs119477052 |
| openSNP | rs119477052 |
| 23andMe | rs119477052 |
| SNPshot | rs119477052 |
| SNPdbe | rs119477052 |
| MSV3d | rs119477052 |
| GWAS Ctlg | rs119477052 |
| Merged from | Rs28939379 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs119477052(A;A) rs119477052(C;C) |
| Alt | rs119477052(A;A) rs119477052(C;C) |
| Reference | Rs119477052(T;T) |
| Significance | Pathogenic |
| Disease | Choreoacanthocytosis |
| Variation | info |
| Gene | VPS13A |
| CLNDBN | Choreoacanthocytosis |
| Reversed | 0 |
| HGVS | NC_000009.11:g.79820310T>A |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000004946.2, |
