Rs1041951
From SNPedia
| is a | snp |
| is | mentioned by |
| dbSNP | rs1041951 |
| hapmap | rs1041951 |
| hgdp | rs1041951 |
| ensembl | rs1041951 |
| gopubmed | rs1041951 |
| scholar | rs1041951 |
| rs1041951 | |
| pharmgkb | rs1041951 |
| hgvbaseg2p | rs1041951 |
| medrefsnp | rs1041951 |
| 23andMe | rs1041951 |
| SNP Nexus |
| Gene | FECH |
| Chromosome | 18 |
| Orientation | plus |
| Position | 53391502 |
| Genotype | Effect |
|---|---|
| rs1041951(C;C) | |
| rs1041951(C;T)* | ? |
| rs1041951(T;T)* | ? |
| Genotypes | Magnitude | Summary |
|---|---|---|
| Rs1041951(C;C) | 00 |
| Venter snp | |
|---|---|
| Source | plos |
| Gene | FECH |
| allele | T |
| frequency | 0.15 |
| sift | TOLERATED |
| HuRef | 1103645208469 |
| Disease Association | Defects in FECH are the cause of erythropoietic protoporphyria (EPP) (MIM:177000). EPP is an dominantly inherited disease of porphyrin metabolism. Depending on the mutation, it can sometimes be recessive. The clinical manifestations are photosensitivity and hepatobiliary disease. |
| ? | (C;C) (C;T) (T;T) |
|---|---|
|
| |
