rs4474514

A SNP in the KITLG gene on chromosome 12. Its most notable genotype is A;A: >3x increased testicular cancer risk for men

Gene
KITLG
Location
Chr 1288,560,182 (GRCh38)
Highest magnitude
1.8Minor
Tested on
23andMe, AncestryDNA
Minor allele frequency
36%

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. A;AMost notableBad>3x increased testicular cancer risk for menMinor · 1.839% of people
  2. A;GBad3x increased testicular cancer risk for menMinor · 1.834% of people
  3. G;GGoodnormalMinor · 1.227% 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 39% A;G 34% G;G 27%
  • European ancestry (Utah)A;A 66% A;G 29% G;G 5%
  • Han Chinese (Beijing)A;A 47% A;G 47% G;G 6%
  • Japanese (Tokyo)A;A 27% A;G 48% G;G 25%
  • Yoruba (Nigeria)A;A 2% A;G 35% G;G 63%
  • African ancestry (Southwest US)A;A 5% A;G 33% G;G 61%
  • Chinese (Denver)A;A 60% A;G 36% G;G 5%
  • Gujarati IndianA;A 58% A;G 38% G;G 4%
  • Luhya (Kenya)A;A 4% A;G 28% G;G 68%
  • Mexican ancestry (Los Angeles)A;A 74% A;G 24% G;G 2%
  • Maasai (Kenya)A;A 10% A;G 35% G;G 56%
  • TuscanA;A 73% A;G 25% G;G 2%

Conditions, medicines and genes

Other KITLG SNPs

All KITLG SNPs

Notes

From SNPedia

Show notes, about 170 words

Testicular germ cell tumor risk I("TGCT"; i.e. testicular cancer risk) was increased 3x per copy of the major (A) allele at rs3782179 and rs4474514 (OR = 3.08, CI: 2.29–4.13; OR = 3.07, CI = 2.29–4.13, respectively), based on a genome-wide scan of 277 primarily Caucasian TGCT cases and 919 controls. Men who have two copies of the common version of the c-KIT ligand KITLG gene have a 4.5-fold higher risk of testicular cancer than men who have two copies of the less common or minor version of the gene. SNPs from the same gene were also implicated in testicular cancer risk in a study of 730 cases and 1,435 controls from the UK and replicating associations in a further 571 cases and 1,806 controls. A second independent locus within DMRT1 is associated with testicular germ cell tumor susceptibility. Associations between variants in KITLG, SPRY4, BAK1, and DMRT1 and pediatric germ cell tumors.

A;A

found in 65% of caucasians but linked 3x higher risk of testicular cancer than the (G;G) form.

Source and license

Adapted from rs4474514 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.