rs104894579
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs104894579(G;T) |
| Make rs104894579(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 17 |
| Position | 70175938 |
| Gene | KCNJ2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs104894579 |
| dbSNP (classic) | rs104894579 |
| ClinGen | rs104894579 |
| ebi | rs104894579 |
| HLI | rs104894579 |
| Exac | rs104894579 |
| Gnomad | rs104894579 |
| Varsome | rs104894579 |
| LitVar | rs104894579 |
| Map | rs104894579 |
| PheGenI | rs104894579 |
| Biobank | rs104894579 |
| 1000 genomes | rs104894579 |
| hgdp | rs104894579 |
| ensembl | rs104894579 |
| geneview | rs104894579 |
| scholar | rs104894579 |
| rs104894579 | |
| pharmgkb | rs104894579 |
| gwascentral | rs104894579 |
| openSNP | rs104894579 |
| 23andMe | rs104894579 |
| SNPshot | rs104894579 |
| SNPdbe | rs104894579 |
| MSV3d | rs104894579 |
| GWAS Ctlg | rs104894579 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs104894579(A;A) rs104894579(C;C) rs104894579(T;T) |
| Alt | rs104894579(A;A) rs104894579(C;C) rs104894579(T;T) |
| Reference | Rs104894579(G;G) |
| Significance | Pathogenic |
| Disease | Congenital long QT syndrome Andersen Tawil syndrome not provided |
| Variation | info |
| Gene | KCNJ2 |
| CLNDBN | Congenital long QT syndrome Andersen Tawil syndrome not provided |
| Reversed | 0 |
| HGVS | NC_000017.10:g.68172079G>A; NC_000017.10:g.68172079G>C; NC_000017.10:g.68172079G>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000058330.3, RCV000194837.1, RCV000058331.3, RCV000009475.2, RCV000058332.3, RCV000170987.3, |
[PMID 21640645] Unique post-exercise electrophysiological test results in a new Andersen-Tawil syndrome mutation.
[PMID 12796536] PIP2 binding residues of Kir2.1 are common targets of mutations causing Andersen syndrome.
[PMID 15831539
] In vivo and in vitro functional characterization of Andersen's syndrome mutations.
[PMID 16217063] Andersen-Tawil syndrome: new potassium channel mutations and possible phenotypic variation.
[PMID 11371347] Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen's syndrome.
[PMID 12163457] Functional and clinical characterization of KCNJ2 mutations associated with LQT7 (Andersen syndrome).
[PMID 17221872] Genotype-phenotype correlations of KCNJ2 mutations in Japanese patients with Andersen-Tawil syndrome.
