rs211239

A SNP in the KL gene on chromosome 13. Its most notable genotype is G;G: 1.7x risk for priapism in SCA patients

Gene
KL
Location
Chr 1333,022,051 (GRCh38)
Highest magnitude
0.0Typical
Tested on
23andMe, FamilyTreeDNA
Minor allele frequency
39%

Genotypes

Plus strand, as in 23andMe and AncestryDNA files.

  1. G;GMost notableBad1.7x risk for priapism in SCA patientsTypical · 0.09% of people
  2. A;GNot rated1.7x risk for priapism in SCA patientsTypical · 0.038% of people
  3. A;ANot ratednormal risk for priapism in SCA patientsTypical · 0.054% of people

SNPedia records rs211239 on the minus strand: (C;C), (C;T), (T;T). 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.

  • AverageG;G 9% A;G 38% A;A 54%
  • European ancestry (Utah)G;G 22% A;G 54% A;A 25%
  • Han Chinese (Beijing)G;G 4% A;G 29% A;A 67%
  • Japanese (Tokyo)G;G 7% A;G 33% A;A 61%
  • Yoruba (Nigeria)G;G 2% A;G 35% A;A 64%

Conditions, medicines and genes

Notes

From SNPedia

Notes

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.

Source and license

Adapted from rs211239 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.