rs199472911
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs199472911(A;C) |
| Make rs199472911(C;C) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 7 |
| Position | 150952504 |
| Gene | KCNH2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs199472911 |
| dbSNP (classic) | rs199472911 |
| ClinGen | rs199472911 |
| ebi | rs199472911 |
| HLI | rs199472911 |
| Exac | rs199472911 |
| Gnomad | rs199472911 |
| Varsome | rs199472911 |
| LitVar | rs199472911 |
| Map | rs199472911 |
| PheGenI | rs199472911 |
| Biobank | rs199472911 |
| 1000 genomes | rs199472911 |
| hgdp | rs199472911 |
| ensembl | rs199472911 |
| geneview | rs199472911 |
| scholar | rs199472911 |
| rs199472911 | |
| pharmgkb | rs199472911 |
| gwascentral | rs199472911 |
| openSNP | rs199472911 |
| 23andMe | rs199472911 |
| SNPshot | rs199472911 |
| SNPdbe | rs199472911 |
| MSV3d | rs199472911 |
| GWAS Ctlg | rs199472911 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs199472911(C;C) rs199472911(G;G) rs199472911(T;T) |
| Alt | rs199472911(C;C) rs199472911(G;G) rs199472911(T;T) |
| Reference | Rs199472911(A;A) |
| Significance | Probable-Pathogenic |
| Disease | Congenital long QT syndrome not provided |
| Variation | info |
| Gene | KCNH2 |
| CLNDBN | Congenital long QT syndrome not provided |
| Reversed | 1 |
| HGVS | NC_000007.13:g.150649592T>A; NC_000007.13:g.150649592T>C; NC_000007.13:g.150649592T>G |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000057916.3, RCV000057915.3, RCV000412722.1, RCV000057914.3, |
