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Vitamin B1 (thiamine) DNA health report

Follow the link of the selected polymorphism to read a brief description of how the selected polymorphism affects Vitamin B1 (thiamine) and see a list of existing studies.

SNP polymorphisms related to the topic Vitamin B1 (thiamine):

rs228587Associated with the occurrence of childhood encephalopathy due to thiaminpyrophosphokinase deficiency. It is a rare treatable neurological disorder caused by mutations in the TPK1 gene.
rs766420A breakdown responsible for the production of the enzyme transketolase, which is involved in the regulation of multiple cancer-related events such as cancer cell proliferation, metastasis, invasion, and resistance to chemoradiation therapy. Indications are high doses of thiamine (vitamin B1), which may normalise the enzyme.
rs2057868Associated with the occurrence of childhood encephalopathy due to thiaminpyrophosphokinase deficiency. It is a rare treatable neurological disorder caused by mutations in the TPK1 gene.
rs2239466A breakdown responsible for the production of the enzyme transketolase, which is involved in the regulation of multiple cancer-related events such as cancer cell proliferation, metastasis, invasion, and resistance to chemoradiation therapy. Indications are high doses of thiamine (vitamin B1), which may normalise the enzyme.
rs4687717A breakdown responsible for the production of the enzyme transketolase, which is involved in the regulation of multiple cancer-related events such as cancer cell proliferation, metastasis, invasion, and resistance to chemoradiation therapy. Indications are high doses of thiamine (vitamin B1), which may normalise the enzyme.
rs4687718A breakdown responsible for the production of the enzyme transketolase, which is involved in the regulation of multiple cancer-related events such as cancer cell proliferation, metastasis, invasion, and resistance to chemoradiation therapy. Indications are high doses of thiamine (vitamin B1), which may normalise the enzyme.
rs4725658Associated with the occurrence of childhood encephalopathy due to thiaminpyrophosphokinase deficiency. It is a rare treatable neurological disorder caused by mutations in the TPK1 gene.
rs4726711Associated with the occurrence of childhood encephalopathy due to thiaminpyrophosphokinase deficiency. It is a rare treatable neurological disorder caused by mutations in the TPK1 gene.
rs4973216The breakage results in impaired ability of the protein to transport folate and thiamine into cells, resulting in reduced absorption of vitamin B1 from food. Thiamine-reactive encephalopathy, characterised by seizures responding to high doses of thiamine, may develop.
rs7585481The breakage results in impairment of the protein's ability to transport thiamine into cells, resulting in decreased absorption of vitamin B1 from food. Thiamine-reactive encephalopathy characterised by seizures responding to high doses of thiamine may develop.
rs7804157Associated with the occurrence of childhood encephalopathy due to thiaminpyrophosphokinase deficiency. It is a rare treatable neurological disorder caused by mutations in the TPK1 gene.
rs10126322A breakdown responsible for the production of the enzyme transketolase, which is involved in the regulation of multiple cancer-related events such as cancer cell proliferation, metastasis, invasion, and resistance to chemoradiation therapy. Indications are high doses of thiamine (vitamin B1), which may normalise the enzyme.
rs10274162Associated with the occurrence of childhood encephalopathy due to thiaminpyrophosphokinase deficiency. It is a rare treatable neurological disorder caused by mutations in the TPK1 gene.
rs10933203The breakage results in impairment of the protein's ability to transport thiamine into cells, resulting in decreased absorption of vitamin B1 from food. Thiamine-reactive encephalopathy characterised by seizures responding to high doses of thiamine may develop.
rs11682956The breakage results in impaired ability of the protein to transport folate and thiamine into cells, resulting in reduced absorption of vitamin B1 from food. Thiamine-reactive encephalopathy, characterised by seizures responding to high doses of thiamine, may develop.
rs11717712A breakdown responsible for the production of the enzyme transketolase, which is involved in the regulation of multiple cancer-related events such as cancer cell proliferation, metastasis, invasion, and resistance to chemoradiation therapy. Indications are high doses of thiamine (vitamin B1), which may normalise the enzyme.
rs12493802A breakdown responsible for the production of the enzyme transketolase, which is involved in the regulation of multiple cancer-related events such as cancer cell proliferation, metastasis, invasion, and resistance to chemoradiation therapy. Indications are high doses of thiamine (vitamin B1), which may normalise the enzyme.
rs13245975Associated with the occurrence of childhood encephalopathy due to thiaminpyrophosphokinase deficiency. It is a rare treatable neurological disorder caused by mutations in the TPK1 gene.
rs17336718A breakdown responsible for the production of the enzyme transketolase, which is involved in the regulation of multiple cancer-related events such as cancer cell proliferation, metastasis, invasion, and resistance to chemoradiation therapy. Indications are high doses of thiamine (vitamin B1), which may normalise the enzyme.
rs371271054Associated with the occurrence of childhood encephalopathy due to thiaminpyrophosphokinase deficiency. It is a rare treatable neurological disorder caused by mutations in the TPK1 gene.
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