rs2297902
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs2297902(C;T) |
| Make rs2297902(T;T) |
| Reference | GRCh38.p7 38.3/149 |
| Chromosome | 1 |
| Position | 201065943 |
| Gene | CACNA1S |
| is a | snp |
| is | mentioned by |
| dbSNP | rs2297902 |
| dbSNP (classic) | rs2297902 |
| ClinGen | rs2297902 |
| ebi | rs2297902 |
| HLI | rs2297902 |
| Exac | rs2297902 |
| Gnomad | rs2297902 |
| Varsome | rs2297902 |
| LitVar | rs2297902 |
| Map | rs2297902 |
| PheGenI | rs2297902 |
| Biobank | rs2297902 |
| 1000 genomes | rs2297902 |
| hgdp | rs2297902 |
| ensembl | rs2297902 |
| geneview | rs2297902 |
| scholar | rs2297902 |
| rs2297902 | |
| pharmgkb | rs2297902 |
| gwascentral | rs2297902 |
| openSNP | rs2297902 |
| 23andMe | rs2297902 |
| SNPshot | rs2297902 |
| SNPdbe | rs2297902 |
| MSV3d | rs2297902 |
| GWAS Ctlg | rs2297902 |
| Max Magnitude | 0 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
| ClinVar | |
|---|---|
| Risk | rs2297902(G;G) rs2297902(T;T) |
| Alt | rs2297902(G;G) rs2297902(T;T) |
| Reference | Rs2297902(C;C) |
| Significance | Pathogenic |
| Disease | not specified Hypokalemic periodic paralysis Hypokalemic periodic paralysis 1 |
| Variation | info |
| Gene | CACNA1S |
| CLNDBN | not specified Hypokalemic periodic paralysis Hypokalemic periodic paralysis 1 |
| Reversed | 1 |
| HGVS | NC_000001.10:g.201035071G>A; NC_000001.10:g.201035071G>C |
| CLNSRC | Illumina |
| CLNACC | RCV000248838.2, RCV000298607.1, RCV000132734.2, |
