rs2448490

A SNP in the SIPA1 gene on chromosome 11. Its most notable genotype is A;A: 0.57x (reduced) risk for metastasis in LN-/ER+ breast cancer patients

Gene
SIPA1
Location
Chr 1165,644,564 (GRCh38)
Highest magnitude
0.0Typical
Tested on
23andMe, FamilyTreeDNA
Minor allele frequency
26%

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. A;AMost notableNot rated0.57x (reduced) risk for metastasis in LN-/ER+ breast cancer patientsTypical · 0.05% of people
  2. A;GNot ratednormalTypical · 0.034% of people
  3. G;GNot ratednormalTypical · 0.061% 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 5% A;G 34% G;G 61%
  • European ancestry (Utah)A;A 11% A;G 48% G;G 42%
  • Han Chinese (Beijing)A;A 7% A;G 37% G;G 56%
  • Japanese (Tokyo)A;A 5% A;G 36% G;G 58%
  • Yoruba (Nigeria)A;A 3% A;G 25% G;G 72%
  • African ancestry (Southwest US)A;A 0% A;G 23% G;G 77%
  • Chinese (Denver)A;A 6% A;G 38% G;G 57%
  • Gujarati IndianA;A 0% A;G 26% G;G 74%
  • Luhya (Kenya)A;A 0% A;G 22% G;G 78%
  • Mexican ancestry (Los Angeles)A;A 7% A;G 41% G;G 52%
  • Maasai (Kenya)A;A 5% A;G 31% G;G 64%
  • TuscanA;A 9% A;G 46% G;G 45%

Conditions, medicines and genes

Other SIPA1 SNPs

All SIPA1 SNPs

Notes

From SNPedia

Show notes, about 170 words

rs2448490 is a SNP in the signal-induced proliferation-associated 1 SIPA1 gene. In a study of 1,725 LN=/ER+ breast cancer patients rs2448490(A;A) homozygotes showed a reduced metastasis risk compared to rs2448490(G) allele carriers. This association was statistically significant for metastasis-free survival (MFS) in multivariate analysis [MFS hazard ratio 0.56, CI: 0.37–0.84, p=0.005) and overall survival (HR 0.59, CI:0.39–0.89, p=0.012)]. This study also found that rs2448490 can be combined with an independent predictor of metastasis free survival, rs9306160, to yield an even stronger prognostic. Specifically, the risk for developing distant metastasis was about 2.5-fold lower (hazard ratio 0.40, CI: 0.24-0.68, p=0.001) for LN-/ER+breast cancer patients who were rs2448490(A;A) and rs9306160(T) carriers compared to patients who were rs2448490(G) carriers and rs9306160(C;C). Genetic variation in SIPA1 in relation to breast cancer risk and survival after breast cancer diagnosis.

Source and license

Adapted from rs2448490 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.