rs61747071
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs61747071(C;T) |
| Make rs61747071(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 16 |
| Position | 53686524 |
| Gene | RPGRIP1L |
| is a | snp |
| is | mentioned by |
| dbSNP | rs61747071 |
| dbSNP (classic) | rs61747071 |
| ClinGen | rs61747071 |
| ebi | rs61747071 |
| HLI | rs61747071 |
| Exac | rs61747071 |
| Gnomad | rs61747071 |
| Varsome | rs61747071 |
| LitVar | rs61747071 |
| Map | rs61747071 |
| PheGenI | rs61747071 |
| Biobank | rs61747071 |
| 1000 genomes | rs61747071 |
| hgdp | rs61747071 |
| ensembl | rs61747071 |
| geneview | rs61747071 |
| scholar | rs61747071 |
| rs61747071 | |
| pharmgkb | rs61747071 |
| gwascentral | rs61747071 |
| openSNP | rs61747071 |
| 23andMe | rs61747071 |
| SNPshot | rs61747071 |
| SNPdbe | rs61747071 |
| MSV3d | rs61747071 |
| GWAS Ctlg | rs61747071 |
| GMAF | 0.03903 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs61747071(T;T) |
| Alt | rs61747071(T;T) |
| Reference | Rs61747071(C;C) |
| Significance | Other |
| Disease | Retinitis pigmentosa in ciliopathies Joubert syndrome not specified Nephronophthisis Meckel-Gruber syndrome |
| Variation | info |
| Gene | RPGRIP1L |
| CLNDBN | Retinitis pigmentosa in ciliopathies, modifier of Joubert syndrome not specified Nephronophthisis Meckel-Gruber syndrome |
| Reversed | 0 |
| HGVS | NC_000016.9:g.53720436C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000001133.3, RCV000035002.2, RCV000114223.5, RCV000234815.2, RCV000332989.1, RCV000473873.1, |
[PMID 19430481
] A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies.
