Rs2249358
From SNPedia
| is a | snp |
| is | mentioned by |
| dbSNP | rs2249358 |
| hapmap | rs2249358 |
| hgdp | rs2249358 |
| ensembl | rs2249358 |
| gopubmed | rs2249358 |
| scholar | rs2249358 |
| rs2249358 | |
| pharmgkb | rs2249358 |
| hgvbaseg2p | rs2249358 |
| medrefsnp | rs2249358 |
| 23andMe | rs2249358 |
| SNP Nexus |
| Gene | KLOTHO |
| Chromosome | 13 |
| Orientation | plus |
| Position | 32521163 |
| Genotype | Effect |
|---|---|
| rs2249358(G;G) | 2.6x risk for priapism in SCA patients |
| rs2249358(A;G) | 2.6x risk for priapism in SCA patients |
| rs2249358(A;A) | normal risk for priapism in SCA patients |
| Genotypes | Magnitude | Summary |
|---|---|---|
| Rs2249358(A;A) | 00 | normal risk for priapism in SCA patients |
| Rs2249358(A;G) | 2.6x risk for priapism in SCA patients | |
| Rs2249358(G;G) | 2.6x risk for priapism in SCA patients |
rs2249358 is one of 2 SNPs (the other is rs211239) in the KLOTHO gene found in a study of ~150 sickle cell anemia (SCA) patients to be associated with risk for priapism. The odds ratio is 2.6 (CI: 1.4-5.5) for carriers of a rs2249358(G) allele, as in dbSNP orientation.[PMID 15638863]
| ? | (A;A) (A;G) (G;G) |
|---|---|
|
| |
Related to SICKLE CELL ANEMIA
according to omim 603903. See also
Related to KLOTHO; KL
according to omim 604824. See also
