rs1800454

A SNP in the TAP2 gene on chromosome 6. Its most notable genotype is T;T: affected

Gene
TAP2
Location
Chr 632,832,635 (GRCh38)
Highest magnitude
1.5Minor
Tested on
23andMe, AncestryDNA, FamilyTreeDNA
Minor allele frequency
15%

Genotypes

Plus strand, as in 23andMe and AncestryDNA files.

  1. T;TMost notableNot ratedaffectedMinor · 1.52% of people
  2. C;TNot ratedcarrierMinor · 1.324% of people
  3. C;CGoodnormalTypical · 0.074% of people

SNPedia records rs1800454 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 11 HapMap populations.

  • AverageT;T 2% C;T 24% C;C 74%
  • European ancestry (Utah)T;T 3% C;T 24% C;C 74%
  • Han Chinese (Beijing)T;T 4% C;T 25% C;C 72%
  • Japanese (Tokyo)T;T 0% C;T 26% C;C 74%
  • Yoruba (Nigeria)T;T 1% C;T 18% C;C 81%
  • African ancestry (Southwest US)T;T 2% C;T 21% C;C 77%
  • Chinese (Denver)T;T 5% C;T 31% C;C 64%
  • Gujarati IndianT;T 0% C;T 18% C;C 82%
  • Luhya (Kenya)T;T 6% C;T 31% C;C 64%
  • Mexican ancestry (Los Angeles)T;T 5% C;T 26% C;C 69%
  • Maasai (Kenya)T;T <1% C;T 15% C;C 84%
  • TuscanT;T 2% C;T 28% C;C 71%

Other TAP2 SNPs

All TAP2 SNPs

Notes

From SNPedia

Notes

Variation in the ATP-binding cassette transporter 2 gene is a separate risk factor for systemic lupus erythematosus within the MHC.

T;T

Of interest since it is a variation from omim, but no obvious consequences.

C;T

Since this comes from omim, it's supposed to be a rare disorder, but HapMap shows that variation is common

Source and license

Adapted from rs1800454 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.