rs1110061
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;G) | 0 | benign polymorphism |
| (G;G) | 0 |
| Reference | GRCh38 38.1/142 |
| Chromosome | 9 |
| Position | 124500523 |
| Gene | NR5A1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1110061 |
| dbSNP (classic) | rs1110061 |
| ClinGen | rs1110061 |
| ebi | rs1110061 |
| HLI | rs1110061 |
| Exac | rs1110061 |
| Gnomad | rs1110061 |
| Varsome | rs1110061 |
| LitVar | rs1110061 |
| Map | rs1110061 |
| PheGenI | rs1110061 |
| Biobank | rs1110061 |
| 1000 genomes | rs1110061 |
| hgdp | rs1110061 |
| ensembl | rs1110061 |
| geneview | rs1110061 |
| scholar | rs1110061 |
| rs1110061 | |
| pharmgkb | rs1110061 |
| gwascentral | rs1110061 |
| openSNP | rs1110061 |
| 23andMe | rs1110061 |
| SNPshot | rs1110061 |
| SNPdbe | rs1110061 |
| MSV3d | rs1110061 |
| GWAS Ctlg | rs1110061 |
| Max Magnitude | 0 |
| ? | (C;C) (C;G) (G;G) | 28 |
|---|---|---|
|
| ||
[PMID 25989977] Mutational screening of NR5A1 gene encoding steroidogenic factor 1 (SF-1) in cryptorchidism and male factor infertility and functional analysis of seven undescribed mutations
| ClinVar | |
|---|---|
| Risk | Rs1110061(G;G) |
| Alt | Rs1110061(G;G) |
| Reference | Rs1110061(C;C) |
| Significance | Non-pathogenic |
| Disease | not specified |
| Variation | info |
| Gene | NR5A1 |
| CLNDBN | not specified |
| Reversed | 0 |
| HGVS | NC_000009.11:g.127262802C>G |
| CLNSRC | |
| CLNACC | RCV000251828.1, |
