Gene: APC ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1291513037
rs1291513037
APC
0.700 GeneticVariation UNIPROT APC mutations in sporadic medulloblastomas. 10666372

2000
dbSNP: rs878853445
rs878853445
APC
0.700 GeneticVariation UNIPROT APC mutations in sporadic medulloblastomas. 10666372

2000
dbSNP: rs387906238
rs387906238
APC
0.010 GeneticVariation BEFREE In 2 further MB biopsies, mutations were identified in exon 5 (Glu408Lys) and exon 8 (Ser738Phe) of the AXIN2 gene, which are due to predicted germline mutations and rare polymorphisms. mRNA expression analysis in 22 MBs revealed reduced expression of AXIN2 mRNA compared to 8 fetal cerebellar tissues. 17373666

2007
dbSNP: rs1057517558
rs1057517558
APC
0.010 GeneticVariation BEFREE The medulloblastoma cell line MHH-MED-2 carried a Glu1317Gln missense germline variant and a sporadic MB sample showed a somatic Pro1319Leu substitution. 11433413

2001
dbSNP: rs1801166
rs1801166
APC
0.010 GeneticVariation BEFREE The medulloblastoma cell line MHH-MED-2 carried a Glu1317Gln missense germline variant and a sporadic MB sample showed a somatic Pro1319Leu substitution. 11433413

2001