Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1554840869
rs1554840869
ACTR1A ; SUFU
TC 0.700 CausalMutation CLINVAR

dbSNP: rs1564654588
rs1564654588
ACTR1A ; SUFU
T 0.700 CausalMutation CLINVAR

dbSNP: rs28942088
rs28942088
ACTR1A ; SUFU
T 0.700 CausalMutation CLINVAR

dbSNP: rs863224925
rs863224925
ACTR1A ; SUFU
T 0.700 CausalMutation CLINVAR

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: 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: 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
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: rs1801516
rs1801516
ATM
0.010 GeneticVariation BEFREE The polymorphism D1853N was reported in healthy individuals and medulloblastomas. 18465141

2008
dbSNP: rs139209450
rs139209450
AXIN2
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: rs749846538
rs749846538
AXIN2
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: 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: rs28897756
rs28897756
BRCA2
A 0.700 CausalMutation CLINVAR

dbSNP: rs397507327
rs397507327
BRCA2
T 0.700 CausalMutation CLINVAR

dbSNP: rs397507404
rs397507404
BRCA2
A 0.700 CausalMutation CLINVAR

dbSNP: rs397508045
rs397508045
BRCA2
A 0.700 CausalMutation CLINVAR

dbSNP: rs41293497
rs41293497
BRCA2
G 0.700 CausalMutation CLINVAR

dbSNP: rs41293511
rs41293511
BRCA2
C 0.700 CausalMutation CLINVAR

dbSNP: rs80358391
rs80358391
BRCA2
T 0.700 CausalMutation CLINVAR

dbSNP: rs80358427
rs80358427
BRCA2
T 0.700 CausalMutation CLINVAR

dbSNP: rs80358435
rs80358435
BRCA2
T 0.700 CausalMutation CLINVAR

dbSNP: rs80358557
rs80358557
BRCA2
T 0.700 CausalMutation CLINVAR