rs56161402
A SNP in the TPMT gene on chromosome 6. Its most notable genotype is T;T: TPMT*8 homozygote; likely issues detoxifying certain drugs
- Gene
- TPMT
- Location
- Chr 618,130,762 (GRCh38)
- Highest magnitude
- 2.5Worth knowing
- Tested on
- AncestryDNA
- Minor allele frequency
- <1%
Genotypes
As shown in 23andMe and AncestryDNA files.
- C;CGoodcommon in clinvar
- C;TNot ratedTPMT*8 heterozygote; possible issues detoxifying certain drugs
- T;TMost notableNot ratedTPMT*8 homozygote; likely issues detoxifying certain drugs
On SNPedia: (C;C), (C;T), (T;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Conditions, medicines and genes
Other TPMT SNPs
- rs1142345C;Cpossibly incapable of detoxifying certain drugsImportant
- rs1800460T;Tincapable of detoxifying byproducts of certain drugsImportant
- rs1800462G;Gincapable of detoxifying certain drugsImportant
- rs1800584T;TTPMT*4A homozygote; likely issues detoxifying certain drugsImportant
- rs2842951C;Ccommon in complete genomicsTypical
Notes
From SNPedia
Notes
rs56161402, also known as R215H or Arg215His, is a relatively rare SNP in the TPMT gene. This SNP potentially encodes a variant incapable of detoxifying byproducts of certain antineoplastic and immunosuppressant drugs. In general, individuals must have two nonfunctioning TPMT alleles for the toxicity to be pronounced. The risk allele for this SNP (in orientation to the dbSNP entry) is rs56161402(T), and it encodes the TPMT*8 allele (OMIM). This SNP was first identified in African-Americans. wikipedia thiopurine drugs metabolized by TPMT include azathioprine, mercaptopurine, and thioguanine 23andMe name: i6019070
Source and license
Adapted from rs56161402 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.