Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs767136747
rs767136747
SARDH
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 GeneticVariation BEFREE Methylation profiling, metabolite assessment and additional analyses were also performed in selected cases.<b>Results:</b> One of the 11 tumors was found to carry a known cancer-predisposing somatic mutation in <i>IDH1</i> A variant in <i>GOT2</i>, c.357A>T, found in a patient with multiple tumors, was associated with higher tumor mRNA and protein expression levels, increased GOT2 enzymatic activity in lymphoblastic cells, and altered metabolite ratios both in tumors and in GOT2 knockdown HeLa cells transfected with the variant. 28720665

2017