rs28933383
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in complete genomics |
| (C;G) | 5.8 | Episodic ataxia, type 1 |
| Make rs28933383(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 12 |
| Position | 4912055 |
| Gene | KCNA1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs28933383 |
| dbSNP (classic) | rs28933383 |
| ClinGen | rs28933383 |
| ebi | rs28933383 |
| HLI | rs28933383 |
| Exac | rs28933383 |
| Gnomad | rs28933383 |
| Varsome | rs28933383 |
| LitVar | rs28933383 |
| Map | rs28933383 |
| PheGenI | rs28933383 |
| Biobank | rs28933383 |
| 1000 genomes | rs28933383 |
| hgdp | rs28933383 |
| ensembl | rs28933383 |
| geneview | rs28933383 |
| scholar | rs28933383 |
| rs28933383 | |
| pharmgkb | rs28933383 |
| gwascentral | rs28933383 |
| openSNP | rs28933383 |
| 23andMe | rs28933383 |
| SNPshot | rs28933383 |
| SNPdbe | rs28933383 |
| MSV3d | rs28933383 |
| GWAS Ctlg | rs28933383 |
| Max Magnitude | 5.8 |
aka c.677C>T (p.Thr226Met or T226M)
Considered "definitely pathogenic" in the Movement Disorder Society Genetic mutation database (MDSGene) for autosomal dominant episodic ataxia, type 1
| ClinVar | |
|---|---|
| Risk | rs28933383(A;A) rs28933383(G;G) rs28933383(T;T) |
| Alt | rs28933383(A;A) rs28933383(G;G) rs28933383(T;T) |
| Reference | Rs28933383(C;C) |
| Significance | Pathogenic |
| Disease | Myokymia 1 Episodic ataxia type 1 |
| Variation | info |
| Gene | KCNA1 |
| CLNDBN | Myokymia 1 Episodic ataxia type 1 |
| Reversed | 0 |
| HGVS | NC_000012.11:g.5021221C>A; NC_000012.11:g.5021221C>G; NC_000012.11:g.5021221C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000014437.25, RCV000014436.24, RCV000020219.1, |
[PMID 18974877
] Modifier effects between regulatory and protein-coding variation.
