rs3758549

A SNP in the GBF1 gene on chromosome 10. Its most notable genotype is G;G: increased risk of parkinson's disease

Gene
GBF1
Location
Chr 10102,244,438 (GRCh38)
Highest magnitude
1.1Minor
Tested on
23andMe, AncestryDNA, FamilyTreeDNA
Minor allele frequency
14%

Genotypes

Plus strand, as in 23andMe and AncestryDNA files.

  1. G;GMost notableBadincreased risk of parkinson's diseaseMinor · 1.179% of people
  2. A;GNot ratednormal risk of parkinson's diseaseTypical · 0.020% of people
  3. A;ANot ratednormal risk of parkinson's diseaseTypical · 0.01% of people

SNPedia records rs3758549 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 11 HapMap populations.

  • AverageG;G 79% A;G 20% A;A 1%
  • European ancestry (Utah)G;G 62% A;G 35% A;A 4%
  • Han Chinese (Beijing)G;G 72% A;G 27% A;A <1%
  • Japanese (Tokyo)G;G 81% A;G 17% A;A 3%
  • Yoruba (Nigeria)G;G 97% A;G 3% A;A 0%
  • African ancestry (Southwest US)G;G 77% A;G 23% A;A 0%
  • Chinese (Denver)G;G 74% A;G 23% A;A 3%
  • Gujarati IndianG;G 90% A;G 10% A;A 0%
  • Luhya (Kenya)G;G 91% A;G 9% A;A 0%
  • Mexican ancestry (Los Angeles)G;G 69% A;G 31% A;A 0%
  • Maasai (Kenya)G;G 85% A;G 15% A;A 0%
  • TuscanG;G 66% A;G 28% A;A 6%

Conditions, medicines and genes

Notes

From SNPedia

Notes

CC linked to parkinson's disease We provide evidence for a novel, strong and reproducible association of the PITX3 promoter SNP rs3758549 : C>T (p=0.004) with PD. The C-allele appears to be a recessive risk allele with an estimated population frequency of 83%.

G;G

While this does indicate increased risk of in one Parkinson's disease study. It is so common that it makes more sense to think of the other 2 genotypes as rare risk reducers.

Source and license

Adapted from rs3758549 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.