Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs879255280
rs879255280
SMO
0.010 GeneticVariation BEFREE Medulloblastoma in a Patient with Curry-Jones Syndrome with a mosaic variant, c.1234C > T (p.Leu412Phe), in SMO. 31825089

2020
dbSNP: rs540045689
rs540045689
PTCH1
0.010 GeneticVariation BEFREE Here we report highly recurrent hotspot mutations (r.3A>G) of U1 spliceosomal small nuclear RNAs (snRNAs) in about 50% of Sonic hedgehog (SHH) medulloblastomas. 31664194

2019
dbSNP: rs13306747
rs13306747
PPARG
0.010 GeneticVariation BEFREE Of the eight SNPs identified, PPARα (rs6008197), PPARγ (rs13306747), and PPARδ (rs3734254) were most significantly associated with long-term changes in general intellectual functioning in medulloblastoma survivors. 30607709

2019
dbSNP: rs3734254
rs3734254
PPARD
0.010 GeneticVariation BEFREE Of the eight SNPs identified, PPARα (rs6008197), PPARγ (rs13306747), and PPARδ (rs3734254) were most significantly associated with long-term changes in general intellectual functioning in medulloblastoma survivors. 30607709

2019
dbSNP: rs6008197
rs6008197
PPARA
0.010 GeneticVariation BEFREE Of the eight SNPs identified, PPARα (rs6008197), PPARγ (rs13306747), and PPARδ (rs3734254) were most significantly associated with long-term changes in general intellectual functioning in medulloblastoma survivors. 30607709

2019
dbSNP: rs113488022
rs113488022
BRAF
0.010 GeneticVariation BEFREE The ability of the polio: rhinovirus recombinant, PVSRIPO, to infect PXA (645 [BRAF V600E mutation], 2363) and medulloblastoma (D283, D341) cells were determined by viral propagation measurement and cell proliferation. 29878245

2018
dbSNP: rs121913377
rs121913377
BRAF
0.010 GeneticVariation BEFREE The ability of the polio: rhinovirus recombinant, PVSRIPO, to infect PXA (645 [BRAF V600E mutation], 2363) and medulloblastoma (D283, D341) cells were determined by viral propagation measurement and cell proliferation. 29878245

2018
dbSNP: rs1063192
rs1063192
CDKN2B ; CDKN2B-AS1
0.010 GeneticVariation BEFREE We hypothesized that CCDKN2A/B rs1063192 and rs4977756 and also the long noncoding RNA (lncRNA) CDKN2BAS rs2157719 glioma susceptibility polymorphisms identified by genome-wide association studies may contribute to medulloblastoma predisposition. 29314442

2018
dbSNP: rs2157719
rs2157719
CDKN2B-AS1
0.010 GeneticVariation BEFREE Moreover, the association between the CDKN2BAS r</span>s2157719 polymorphism and medulloblastoma risk is more pronounced in males (OR = 2.22, 95% CI = 1.36-3.62; p = 0.001). 29314442

2018
dbSNP: rs4977756
rs4977756
CDKN2B-AS1
0.010 GeneticVariation BEFREE We hypothesized that CCDKN2A/B rs1063192 and rs4977756 and also the long noncoding RNA (lncRNA) CDKN2BAS rs2157719 glioma susceptibility polymorphisms identified by genome-wide association studies may contribute to medulloblastoma predisposition. 29314442

2018
dbSNP: rs1400239417
rs1400239417
ALK
0.010 GeneticVariation BEFREE Identification of a novel inherited ALK variant M1199L in the WNT type of medulloblastoma. 27179218

2016
dbSNP: rs121913400
rs121913400
CTNNB1
G 0.810 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs121913400
rs121913400
CTNNB1
T 0.810 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs121913400
rs121913400
CTNNB1
A 0.810 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs121913228
rs121913228
CTNNB1
C 0.800 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs121913228
rs121913228
CTNNB1
G 0.800 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs1057519884
rs1057519884
CREBBP
A 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs1057519884
rs1057519884
CREBBP
T 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs1057519886
rs1057519886
CTNNB1
G 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs1057519886
rs1057519886
CTNNB1
A 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs1057519886
rs1057519886
CTNNB1
C 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs1057519889
rs1057519889
EP300
A 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs1057519889
rs1057519889
EP300
T 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs1057519895
rs1057519895
FBXW7
G 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs1057519895
rs1057519895
FBXW7
T 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016