rs995030

A SNP in the KITLG gene on chromosome 12. Its most notable genotype is A;A: Reduced risk of testicular cancer

Gene
KITLG
Location
Chr 1288,496,894 (GRCh38)
Highest magnitude
2.1Worth knowing
Tested on
23andMe, AncestryDNA
Minor allele frequency
34%

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. A;AMost notableGoodReduced risk of testicular cancerWorth knowing · 2.124% of people
  2. A;GGoodreduced risk of testicular cancer in menWorth knowing · 2.035% of people
  3. G;GBadnon-protective against testicular cancerMinor · 1.541% 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 11 HapMap populations.

  • AverageA;A 24% A;G 35% G;G 41%
  • European ancestry (Utah)A;A 4% A;G 30% G;G 66%
  • Han Chinese (Beijing)A;A 4% A;G 46% G;G 50%
  • Japanese (Tokyo)A;A 20% A;G 50% G;G 29%
  • Yoruba (Nigeria)A;A 59% A;G 37% G;G 5%
  • African ancestry (Southwest US)A;A 56% A;G 37% G;G 7%
  • Chinese (Denver)A;A 4% A;G 33% G;G 63%
  • Gujarati IndianA;A 4% A;G 33% G;G 63%
  • Luhya (Kenya)A;A 63% A;G 30% G;G 7%
  • Mexican ancestry (Los Angeles)A;A 2% A;G 24% G;G 74%
  • Maasai (Kenya)A;A 49% A;G 39% G;G 12%
  • TuscanA;A 1% A;G 24% G;G 76%

Conditions, medicines and genes

Other KITLG SNPs

All KITLG SNPs

Notes

From SNPedia

Notes

23andMe blog each rs4624820(G) increases the odds of testicular cancer by 2.5x. As reported by the CPMC, relative to men who are rs995030(G;G), men who are rs995030(A;G) have a 0.38 relative risk, and those who are (A;A) have a 0.15 relative risk. Association of genetic markers within the KIT and KITLG genes with human male infertility. Common variation in KITLG and at 5q31.3 predisposes to testicular germ cell cancer.

A;G

see discussion at rs995030

Source and license

Adapted from rs995030 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.