rs2853498

A SNP on chromosome MT. Its most notable genotype is G;G: 12308+, MT-Haplogroup U or K.

Gene
None listed
Location
Chr MT12,308 (GRCh38)
Highest magnitude
1.5Minor
Tested on
23andMe, AncestryDNA
Minor allele frequency
10%

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. A;AGood12308-, not MT-Haplogroup U or K.Typical · 0.194% of people
  2. G;GMost notableBad12308+, MT-Haplogroup U or K.Minor · 1.56% of people

On SNPedia: (A;A), (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.

  • AverageA;A 94% G;G 6%
  • European ancestry (Utah)A;A 75% G;G 25%
  • Han Chinese (Beijing)A;A 100% G;G 0%
  • Japanese (Tokyo)A;A 100% G;G 0%
  • Yoruba (Nigeria)A;A 100% G;G 0%

Genosets

Genosets combine several genotypes. Twofold checks them in your report.

Notes

From SNPedia

Show notes, about 140 words

Commonly known as A12308G or 12308, this is one of the three defining mitochondrial DNA mutations of Haplogroup U. G means Haplogroup U, A means not Haplogroup U. Medically, this is part of the mitochondrial tRNA gene MT-L2, responsible for building mitochondrial proteins containing the amino acid Leucine. This only affects the 13 proteins encoded by mitochondrial DNA, not the thousands of other mitochondrial proteins encoded by the normal DNA in the nucleus.

A;A

MT-L2 gene is normal, not mitochondrial haplogroup U or K. Possibly decreased risk of Age-related Macular Degeneration.

G;G

One of the three SNPs required for Mitochondrial haplogroup U or K is present. This also indicates a mutation in the mitochondrial gene for building proteins containing the amino acid Leucine. It has been linked to a 1.5x increased risk of Age-related Macular Degeneration.

Source and license

Adapted from rs2853498 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.