rs10178458
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;T) | 0 | |
| (T;T) | 0 | common in clinvar |
| Make rs10178458(C;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 2 |
| Position | 227246719 |
| Gene | COL4A3, LOC654841 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs10178458 |
| dbSNP (classic) | rs10178458 |
| ClinGen | rs10178458 |
| ebi | rs10178458 |
| HLI | rs10178458 |
| Exac | rs10178458 |
| Gnomad | rs10178458 |
| Varsome | rs10178458 |
| LitVar | rs10178458 |
| Map | rs10178458 |
| PheGenI | rs10178458 |
| Biobank | rs10178458 |
| 1000 genomes | rs10178458 |
| hgdp | rs10178458 |
| ensembl | rs10178458 |
| geneview | rs10178458 |
| scholar | rs10178458 |
| rs10178458 | |
| pharmgkb | rs10178458 |
| gwascentral | rs10178458 |
| openSNP | rs10178458 |
| 23andMe | rs10178458 |
| SNPshot | rs10178458 |
| SNPdbe | rs10178458 |
| MSV3d | rs10178458 |
| GWAS Ctlg | rs10178458 |
| GMAF | 0.191 |
| Max Magnitude | 0 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
[PMID 20029656
] Polymorphisms in COL4A3 and COL4A4 genes associated with keratoconus.
| ClinVar | |
|---|---|
| Risk | rs10178458(C;C) |
| Alt | rs10178458(C;C) |
| Reference | Rs10178458(T;T) |
| Significance | Non-pathogenic |
| Disease | not specified Alport syndrome |
| Variation | info |
| Gene | COL4A3 LOC654841 |
| CLNDBN | not specified Alport syndrome |
| Reversed | 0 |
| HGVS | NC_000002.11:g.228111435T>C |
| CLNSRC | |
| CLNACC | RCV000245465.1, RCV000399711.1, |
