rs2981578
A SNP in the FGFR2 gene on chromosome 10. Its most notable genotype is T;T: normal
- Gene
- FGFR2
- Location
- Chr 10121,580,797 (GRCh38)
- Highest magnitude
- 0.0Typical
- Tested on
- 23andMe, AncestryDNA, FamilyTreeDNA
- Minor allele frequency
- 38%
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
- T;TMost notableNot ratednormal
- C;TNot rated1.20x increased breast cancer risk
- C;CNot rated1.64x increased breast cancer risk
SNPedia records rs2981578 on the minus strand: (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.
- AverageT;T 20% C;T 39% C;C 41%
- European ancestry (Utah)T;T 29% C;T 45% C;C 26%
- Han Chinese (Beijing)T;T 18% C;T 53% C;C 29%
- Japanese (Tokyo)T;T 32% C;T 50% C;C 18%
- Yoruba (Nigeria)T;T 2% C;T 10% C;C 89%
Related
Conditions, medicines and genes
Other FGFR2 SNPs
- rs2981582A;A1.7x higher risk of ER+ breast cancerImportant
- rs3750817T;T0.64x reduced risk for breast cancer, and higher likelihood of favorable postmenopausal hormone therapyWorth knowing
- rs1219648G;G1.64x risk for breast cancerWorth knowing
- rs2420946T;T1.64x risk for breast cancerWorth knowing
- rs4752566G;Tassociated with thicker hair in AsiansMinor
- rs755793A;Acommon in complete genomicsTypical
- rs1047100T;Tcommon in clinvarTypical
- rs2303568A;Acommon in complete genomicsTypical
Notes
From SNPedia
Show notes, about 200 words
rs2981578 is a SNP within intron 2 of the FGFR2 gene, as part of a haplotype associated with increased risk for sporadic postmenopausal ER+ breast cancer in Caucasian patients. The risk shown for this SNP is actually the risk calculated for the tightly associated SNP rs1219648. The distinguishing feature of rs2981578 is experimental evidence indicating that it is one of two SNPs in this intron that appear to have a (the?) functional role associated with the transcriptional regulation of the FGFR2 gene. The minor alleles of both SNPs, rs2981578 and rs7895676, lead to increased transcription and increased breast cancer risk. Common variation in the fibroblast growth factor receptor 2 gene is not associated with endometriosis risk. Allele-specific up-regulation of FGFR2 increases susceptibility to breast cancer. FGFR2 variants and breast cancer risk: fine-scale mapping using African American studies and analysis of chromatin conformation. Analytical methods for inferring functional effects of single base pair substitutions in human cancers. Histone-acetylated control of fibroblast growth factor receptor 2 intron 2 polymorphisms and isoform splicing in breast cancer.
Source and license
Adapted from rs2981578 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.