rs541217363
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs541217363(C;T) |
| Make rs541217363(T;T) |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | 9 |
| Position | 27180259 |
| Gene | TEK |
| is a | snp |
| is | mentioned by |
| dbSNP | rs541217363 |
| dbSNP (classic) | rs541217363 |
| ClinGen | rs541217363 |
| ebi | rs541217363 |
| HLI | rs541217363 |
| Exac | rs541217363 |
| Gnomad | rs541217363 |
| Varsome | rs541217363 |
| LitVar | rs541217363 |
| Map | rs541217363 |
| PheGenI | rs541217363 |
| Biobank | rs541217363 |
| 1000 genomes | rs541217363 |
| hgdp | rs541217363 |
| ensembl | rs541217363 |
| geneview | rs541217363 |
| scholar | rs541217363 |
| rs541217363 | |
| pharmgkb | rs541217363 |
| gwascentral | rs541217363 |
| openSNP | rs541217363 |
| 23andMe | rs541217363 |
| SNPshot | rs541217363 |
| SNPdbe | rs541217363 |
| MSV3d | rs541217363 |
| GWAS Ctlg | rs541217363 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs541217363(A;A) rs541217363(T;T) |
| Alt | rs541217363(A;A) rs541217363(T;T) |
| Reference | Rs541217363(C;C) |
| Significance | Pathogenic |
| Disease | Glaucoma 3 |
| Variation | info |
| Gene | TEK |
| CLNDBN | Glaucoma 3, primary congenital, E |
| Reversed | 0 |
| HGVS | NC_000009.11:g.27180257C>A |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000415569.1, |
