rs11697186

This is a regulatory region variant variant in the ITPA gene.

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GWAS Catalog Trait Associations (1)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

chronic hepatitis C virus infection

Tanaka Y et al. “Genome-wide association study identified ITPA/DDRGK1 variants reflecting thrombocytopenia in pegylated interferon and ribavirin therapy for chronic hepatitis C.” Human Molecular Genetics 20(17):3507-16 (2011)

Allele A

OR 4.50

p 5.0e-17

N 303

Small GWAS

East Asian

About ITPA

This gene encodes an inosine triphosphate pyrophosphohydrolase. The encoded protein hydrolyzes inosine triphosphate and deoxyinosine triphosphate to the monophosphate nucleotide and diphosphate. This protein, which is a member of the HAM1 NTPase protein family, is found in the cytoplasm and acts as a homodimer. Defects in the encoded protein can result in inosine triphosphate pyrophosphorylase deficiency which causes an accumulation of ITP in red blood cells. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012]

View all ITPA variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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