rs104894516
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs104894516(C;G) |
| Make rs104894516(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 16 |
| Position | 86567632 |
| Gene | FOXC2, FOXC2-AS1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs104894516 |
| dbSNP (classic) | rs104894516 |
| ClinGen | rs104894516 |
| ebi | rs104894516 |
| HLI | rs104894516 |
| Exac | rs104894516 |
| Gnomad | rs104894516 |
| Varsome | rs104894516 |
| LitVar | rs104894516 |
| Map | rs104894516 |
| PheGenI | rs104894516 |
| Biobank | rs104894516 |
| 1000 genomes | rs104894516 |
| hgdp | rs104894516 |
| ensembl | rs104894516 |
| geneview | rs104894516 |
| scholar | rs104894516 |
| rs104894516 | |
| pharmgkb | rs104894516 |
| gwascentral | rs104894516 |
| openSNP | rs104894516 |
| 23andMe | rs104894516 |
| SNPshot | rs104894516 |
| SNPdbe | rs104894516 |
| MSV3d | rs104894516 |
| GWAS Ctlg | rs104894516 |
| Max Magnitude | 0 |
Reported to be associated with Lymphedema-distichiasis syndrome.
See OMIM 602402.0001
| ClinVar | |
|---|---|
| Risk | rs104894516(G;G) |
| Alt | rs104894516(G;G) |
| Reference | Rs104894516(C;C) |
| Significance | Pathogenic |
| Disease | Distichiasis-lymphedema syndrome |
| Variation | info |
| Gene | FOXC2 FOXC2-AS1 |
| CLNDBN | Distichiasis-lymphedema syndrome |
| Reversed | 0 |
| HGVS | NC_000016.9:g.86601238C>G |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000007671.3, |
