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rs211239

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 1.7x risk for priapism in SCA patients
(C;T) 1.7x risk for priapism in SCA patients
(T;T) normal risk for priapism in SCA patients
ReferenceGRCh38 38.1/141
Chromosome13
Position33022051
GeneKL
is asnp
is mentioned by
dbSNPrs211239
ebirs211239
HLIrs211239
Exacrs211239
Varsomers211239
Maprs211239
PheGenIrs211239
hapmaprs211239
1000 genomesrs211239
hgdprs211239
ensemblrs211239
gopubmedrs211239
geneviewrs211239
scholarrs211239
googlers211239
pharmgkbrs211239
gwascentralrs211239
openSNPrs211239
23andMers211239
23andMe allrs211239
SNP Nexus

SNPshotrs211239
SNPdbers211239
MSV3drs211239
GWAS Ctlgrs211239
GMAF0.3893
Max Magnitude
? (C;C) (C;T) (T;T) 28
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]
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.