rs2249358

Orientation

plus

Stabilized

plus

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

Reference

GRCh38 38.1/141

Chromosome

13

Position

33049027

Gene

KL

is a	snp
is	mentioned by
dbSNP	rs2249358
dbSNP (classic)	rs2249358
ClinGen	rs2249358
ebi	rs2249358
HLI	rs2249358
Exac	rs2249358
Gnomad	rs2249358
Varsome	rs2249358
LitVar	rs2249358
Map	rs2249358
PheGenI	rs2249358
Biobank	rs2249358
1000 genomes	rs2249358
hgdp	rs2249358
ensembl	rs2249358
geneview	rs2249358
scholar	rs2249358
google	rs2249358
pharmgkb	rs2249358
gwascentral	rs2249358
openSNP	rs2249358
23andMe	rs2249358
SNPshot	rs2249358
SNPdbe	rs2249358
MSV3d	rs2249358
GWAS Ctlg	rs2249358

GMAF

0.3274

Max Magnitude

0

?	(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]

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.