rs2249358

A SNP in the KL gene on chromosome 13. Its most notable genotype is A;A: normal risk for priapism in SCA patients

Gene
KL
Location
Chr 1333,049,027 (GRCh38)
Highest magnitude
0.0Typical
Tested on
23andMe, FamilyTreeDNA
Minor allele frequency
33%

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. A;AMost notableNot ratednormal risk for priapism in SCA patientsTypical · 0.044% of people
  2. A;GNot rated2.6x risk for priapism in SCA patientsTypical · 0.046% of people
  3. G;GNot rated2.6x risk for priapism in SCA patientsTypical · 0.011% of people

On SNPedia: (A;A), (A;G), (G;G). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.

Frequency

Share of each genotype in 4 HapMap populations.

  • AverageA;A 44% A;G 46% G;G 11%
  • European ancestry (Utah)A;A 52% A;G 39% G;G 9%
  • Han Chinese (Beijing)A;A 44% A;G 53% G;G 2%
  • Japanese (Tokyo)A;A 57% A;G 43% G;G 0%
  • Yoruba (Nigeria)A;A 21% A;G 48% G;G 31%

Conditions, medicines and genes

Other KL SNPs

All KL SNPs

Notes

From SNPedia

Notes

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.

Source and license

Adapted from rs2249358 on SNPedia, using a snapshot taken October 16, 2026. SNPedia content is shared under CC BY-NC-SA 3.0 US, and this page is shared under the same license.

SNPedia is a community-edited wiki. Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice. Magnitude is a community rating of how interesting a genotype is, not a risk score.