rs6180
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| (C;C) | 0 |
| Make rs6180(A;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 5 |
| Position | 42719137 |
| Gene | GHR |
| is a | snp |
| is | mentioned by |
| dbSNP | rs6180 |
| dbSNP (classic) | rs6180 |
| ClinGen | rs6180 |
| ebi | rs6180 |
| HLI | rs6180 |
| Exac | rs6180 |
| Gnomad | rs6180 |
| Varsome | rs6180 |
| LitVar | rs6180 |
| Map | rs6180 |
| PheGenI | rs6180 |
| Biobank | rs6180 |
| 1000 genomes | rs6180 |
| hgdp | rs6180 |
| ensembl | rs6180 |
| geneview | rs6180 |
| scholar | rs6180 |
| rs6180 | |
| pharmgkb | rs6180 |
| gwascentral | rs6180 |
| openSNP | rs6180 |
| 23andMe | rs6180 |
| SNPshot | rs6180 |
| SNPdbe | rs6180 |
| MSV3d | rs6180 |
| GWAS Ctlg | rs6180 |
| GMAF | 0.4426 |
| Max Magnitude | 0 |
| ? | (A;A) (A;C) (C;C) | 28 |
|---|---|---|
|
| ||
| ClinVar | |
|---|---|
| Risk | Rs6180(C;C) |
| Alt | Rs6180(C;C) |
| Reference | Rs6180(A;A) |
| Significance | Other |
| Disease | Familial hypercholesterolemia not specified Laron-type isolated somatotropin defect |
| Variation | info |
| Gene | GHR |
| CLNDBN | Familial hypercholesterolemia not specified Laron-type isolated somatotropin defect |
| Reversed | 0 |
| HGVS | NC_000005.9:g.42719239A>C |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000009190.4, RCV000173652.2, RCV000392579.1, |
[PMID 20445798
] Chromosome 5p Region SNPs Are Associated with Risk of NSCLC among Women.
