Rs10178458
From SNPedia
| is a | snp |
| is | mentioned by |
| dbSNP | rs10178458 |
| hapmap | rs10178458 |
| hgdp | rs10178458 |
| ensembl | rs10178458 |
| gopubmed | rs10178458 |
| scholar | rs10178458 |
| rs10178458 | |
| pharmgkb | rs10178458 |
| hgvbaseg2p | rs10178458 |
| medrefsnp | rs10178458 |
| 23andMe | rs10178458 |
| SNP Nexus |
| Gene | COL4A3 |
| Chromosome | 2 |
| Orientation | plus |
| Position | 227819678 |
| Genotype | Effect |
|---|---|
| rs10178458(C;C)* | ? |
| rs10178458(C;T) | |
| rs10178458(T;T)* | ? |
| Genotypes | Magnitude | Summary |
|---|---|---|
| Rs10178458(C;T) | 00 |
| Venter snp | |
|---|---|
| Source | plos |
| Gene | COL4A3 |
| allele | C |
| frequency | |
| sift | TOLERATED |
| HuRef | 1103658384823 |
| Disease Association | Defects in COL4A3 are a cause of autosomal recessive Alport syndrome (AS) (MIM:203780). AS is an hereditary disorder characterized by progressive glomerulonephritis, renal failure, hematuria, ocular abnormalities and deafness. The recessive form occurs equally between males and females. |
| ? | (C;C) (C;T) (T;T) |
|---|---|
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