rs28939719
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs28939719(C;C) |
| Make rs28939719(C;T) |
| Reference | GRCh37 37.1/131 |
| Chromosome | 19 |
| Position | 919563 |
| Gene | KISS1R |
| is a | snp |
| is | mentioned by |
| dbSNP | rs28939719 |
| dbSNP (classic) | rs28939719 |
| ClinGen | rs28939719 |
| ebi | rs28939719 |
| HLI | rs28939719 |
| Exac | rs28939719 |
| Gnomad | rs28939719 |
| Varsome | rs28939719 |
| LitVar | rs28939719 |
| Map | rs28939719 |
| PheGenI | rs28939719 |
| Biobank | rs28939719 |
| 1000 genomes | rs28939719 |
| hgdp | rs28939719 |
| ensembl | rs28939719 |
| geneview | rs28939719 |
| scholar | rs28939719 |
| rs28939719 | |
| pharmgkb | rs28939719 |
| gwascentral | rs28939719 |
| openSNP | rs28939719 |
| 23andMe | rs28939719 |
| SNPshot | rs28939719 |
| SNPdbe | rs28939719 |
| MSV3d | rs28939719 |
| GWAS Ctlg | rs28939719 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs28939719(C;C) |
| Alt | rs28939719(C;C) |
| Reference | Rs28939719(T;T) |
| Significance | Pathogenic |
| Disease | Hypogonadotropic hypogonadism 8 without anosmia |
| Variation | info |
| Gene | KISS1R |
| CLNDBN | Hypogonadotropic hypogonadism 8 without anosmia |
| Reversed | 0 |
| HGVS | NC_000019.9:g.919563T>C |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000030878.3, |
