Promethease 0.1.82
Rs1046974
From SNPedia
| is a | snp |
| is | mentioned by |
| dbSNP | rs1046974 |
| hapmap | rs1046974 |
| hgdp | rs1046974 |
| ensembl | rs1046974 |
| gopubmed | rs1046974 |
| scholar | rs1046974 |
| rs1046974 | |
| pharmgkb | rs1046974 |
| hgvbaseg2p | rs1046974 |
| medrefsnp | rs1046974 |
| 23andMe | rs1046974 |
| SNP Nexus |
| Gene | SAG |
| Chromosome | 2 |
| Orientation | plus |
| Position | 233920286 |
| Genotype | Effect |
|---|---|
| rs1046974(A;A)* | ? |
| rs1046974(A;G)* | ? |
| rs1046974(G;G)* | ? |
| Venter snp | |
|---|---|
| Source | plos |
| Gene | SAG |
| allele | A |
| frequency | 0.375 |
| sift | |
| HuRef | 1103658396384 |
| Disease Association | Defects in SAG are the cause of Oguchi disease 1 (MIM:258100); also known as stationary night blindness Oguchi type-1. It is a form of recessively inherited stationary night blindness. |
| ? | (A;A) (A;G) (G;G) |
|---|---|
|
| |
