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rs2249358

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Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 normal risk for priapism in SCA patients
(A;G) 2.6x risk for priapism in SCA patients
(G;G) 2.6x risk for priapism in SCA patients
ReferenceGRCh38 38.1/141
Chromosome13
Position33049027
GeneKL
is asnp
is mentioned by
dbSNPrs2249358
ebirs2249358
HLIrs2249358
Exacrs2249358
Varsomers2249358
Maprs2249358
PheGenIrs2249358
hapmaprs2249358
1000 genomesrs2249358
hgdprs2249358
ensemblrs2249358
gopubmedrs2249358
geneviewrs2249358
scholarrs2249358
googlers2249358
pharmgkbrs2249358
gwascentralrs2249358
openSNPrs2249358
23andMers2249358
23andMe allrs2249358
SNP Nexus

SNPshotrs2249358
SNPdbers2249358
MSV3drs2249358
GWAS Ctlgrs2249358
GMAF0.3274
Max Magnitude0
? (A;A) (A;G) (G;G) 28
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]
OMIM603903
DescSICKLE CELL ANEMIA
Variant
Relatedalso
OMIM604824
DescKLOTHO; KL
Variant
Relatedalso
[PMID 15784727OA-icon.png] Association of klotho, bone morphogenic protein 6, and annexin A2 polymorphisms with sickle cell osteonecrosis.


[PMID 20401335OA-icon.png] Sickle Cell Disease in the Post Genomic Era: A Monogenic Disease with a Polygenic Phenotype.