rs211239

Orientation

minus

Stabilized

minus

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

Reference

GRCh38 38.1/141

Chromosome

13

Position

33022051

Gene

KL

is a	snp
is	mentioned by
dbSNP	rs211239
dbSNP (classic)	rs211239
ClinGen	rs211239
ebi	rs211239
HLI	rs211239
Exac	rs211239
Gnomad	rs211239
Varsome	rs211239
LitVar	rs211239
Map	rs211239
PheGenI	rs211239
Biobank	rs211239
1000 genomes	rs211239
hgdp	rs211239
ensembl	rs211239
geneview	rs211239
scholar	rs211239
google	rs211239
pharmgkb	rs211239
gwascentral	rs211239
openSNP	rs211239
23andMe	rs211239
SNPshot	rs211239
SNPdbe	rs211239
MSV3d	rs211239
GWAS Ctlg	rs211239

GMAF

0.3893

Max Magnitude

0

?	(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]

OMIM	603903
Desc	SICKLE CELL ANEMIA
Variant
Related	also

OMIM	604824
Desc	KLOTHO; KL
Variant
Related	also

[PMID 15784727] Association of klotho, bone morphogenic protein 6, and annexin A2 polymorphisms with sickle cell osteonecrosis.

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