Rs211239
From SNPedia
| is a | snp |
| is | mentioned by |
| dbSNP | rs211239 |
| hapmap | rs211239 |
| hgdp | rs211239 |
| ensembl | rs211239 |
| gopubmed | rs211239 |
| scholar | rs211239 |
| rs211239 | |
| pharmgkb | rs211239 |
| hgvbaseg2p | rs211239 |
| medrefsnp | rs211239 |
| 23andMe | rs211239 |
| SNP Nexus |
| Gene | KLOTHO |
| Chromosome | 13 |
| Orientation | minus |
| Position | 32494188 |
| Genotype | Effect |
|---|---|
| rs211239(C;C) | 1.7x risk for priapism in SCA patients |
| rs211239(C;T) | 1.7x risk for priapism in SCA patients |
| rs211239(T;T) | normal risk for priapism in SCA patients |
| Genotypes | Magnitude | Summary |
|---|---|---|
| Rs211239(C;C) | 1.7x risk for priapism in SCA patients | |
| Rs211239(C;T) | 1.7x risk for priapism in SCA patients | |
| Rs211239(T;T) | normal risk for priapism in SCA patients |
rs211239 is one of 2 SNPs (the other is rs2249358) 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 1.7 (CI: 1.2-2.6) for carriers of a rs211239(C) allele, as in dbSNP orientation.[PMID 15638863]
| ? | (C;C) (C;T) (T;T) |
|---|---|
|
| |
Related to SICKLE CELL ANEMIA
according to omim 603903. See also
Related to KLOTHO; KL
according to omim 604824. See also
