rs121918125
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs121918125(C;T) |
| Make rs121918125(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 4 |
| Position | 103591515 |
| Gene | TACR3 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs121918125 |
| dbSNP (classic) | rs121918125 |
| ClinGen | rs121918125 |
| ebi | rs121918125 |
| HLI | rs121918125 |
| Exac | rs121918125 |
| Gnomad | rs121918125 |
| Varsome | rs121918125 |
| LitVar | rs121918125 |
| Map | rs121918125 |
| PheGenI | rs121918125 |
| Biobank | rs121918125 |
| 1000 genomes | rs121918125 |
| hgdp | rs121918125 |
| ensembl | rs121918125 |
| geneview | rs121918125 |
| scholar | rs121918125 |
| rs121918125 | |
| pharmgkb | rs121918125 |
| gwascentral | rs121918125 |
| openSNP | rs121918125 |
| 23andMe | rs121918125 |
| SNPshot | rs121918125 |
| SNPdbe | rs121918125 |
| MSV3d | rs121918125 |
| GWAS Ctlg | rs121918125 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs121918125(T;T) |
| Alt | rs121918125(T;T) |
| Reference | Rs121918125(C;C) |
| Significance | Pathogenic |
| Disease | Hypogonadotropic hypogonadism 11 with or without anosmia not provided |
| Variation | info |
| Gene | TACR3 |
| CLNDBN | Hypogonadotropic hypogonadism 11 with or without anosmia not provided |
| Reversed | 1 |
| HGVS | NC_000004.11:g.104512672G>A |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) UniProtKB (variants) |
| CLNACC | RCV000030898.25, RCV000059783.1, |
[PMID 19079066
] TAC3 and TACR3 mutations in familial hypogonadotropic hypogonadism reveal a key role for Neurokinin B in the central control of reproduction.
