RS1800462 TPMT

Drug Response Chr 6:18143723 snv missense variant

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What This Variant Does

"rs1800462, also known as A80P, is a rare SNP in the TPMT gene, potentially encoding a variant incapa...

Associated Conditions

Thiopurine S-methyltransferase deficiency

GWAS Studies (1)

Trait	Risk Allele	OR / Beta	P-value	Study
TPMT protein levels	G	OR: 0.87	9E-57	PubMed

Population Frequencies

gnomAD ALL

0.2%

1kG AFR

99.9%

1kG ALL

99.8%

1kG AMR

0.6%

1kG EAS

100%

1kG EUR

0.6%

1kG SAS

100%

Other Variants in TPMT