Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80358785
rs80358785
BRCA2
G 0.700 CausalMutation CLINVAR

dbSNP: rs80358807
rs80358807
BRCA2
T 0.700 CausalMutation CLINVAR

dbSNP: rs80358814
rs80358814
BRCA2
T 0.700 CausalMutation CLINVAR

dbSNP: rs80358893
rs80358893
BRCA2
G 0.700 CausalMutation CLINVAR

dbSNP: rs80358920
rs80358920
BRCA2
T 0.700 CausalMutation CLINVAR

dbSNP: rs80358972
rs80358972
BRCA2
T 0.700 CausalMutation CLINVAR

dbSNP: rs80359014
rs80359014
BRCA2
T 0.700 CausalMutation CLINVAR

dbSNP: rs80359031
rs80359031
BRCA2
T 0.700 CausalMutation CLINVAR

dbSNP: rs80359200
rs80359200
BRCA2
G 0.700 CausalMutation CLINVAR

dbSNP: rs80359212
rs80359212
BRCA2
T 0.700 CausalMutation CLINVAR

dbSNP: rs80359604
rs80359604
BRCA2
C 0.700 CausalMutation CLINVAR

dbSNP: rs863224925
rs863224925
ACTR1A ; SUFU
T 0.700 CausalMutation CLINVAR

dbSNP: rs121913400
rs121913400
CTNNB1
0.810 GeneticVariation UNIPROT APC mutations in sporadic medulloblastomas. 10666372

2000
dbSNP: rs121913228
rs121913228
CTNNB1
0.800 GeneticVariation UNIPROT APC mutations in sporadic medulloblastomas. 10666372

2000
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: rs121913400
rs121913400
CTNNB1
0.810 GeneticVariation BEFREE These mutations caused amino acid substitutions in 3 of 80 medulloblastomas (Ser33Phe, Ser33Cys and Ser37Cys) and 1 of 4 supratentorial PNETs (Gly34Val). 11433413

2001
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: rs78380192
rs78380192
PAF1 ; MED29
0.010 GeneticVariation BEFREE These mutations caused amino acid substitutions in 3 of 80 medulloblastomas (Ser33Phe, Ser33Cys and Ser37Cys) and 1 of 4 supratentorial PNETs (Gly34Val). 11433413

2001
dbSNP: rs121913400
rs121913400
CTNNB1
0.810 GeneticVariation UNIPROT Identification of two novel regulated serines in the N terminus of beta-catenin. 12027456

2002
dbSNP: rs121913228
rs121913228
CTNNB1
0.800 GeneticVariation UNIPROT Identification of two novel regulated serines in the N terminus of beta-catenin. 12027456

2002
dbSNP: rs1042522
rs1042522
TP53
0.020 GeneticVariation BEFREE Loss of heterozygosity and p53 polymorphism Pro72Arg in a young patient with medulloblastoma. 12684657

2003
dbSNP: rs1131691014
rs1131691014
TP53
0.020 GeneticVariation BEFREE Loss of heterozygosity and p53 polymorphism Pro72Arg in a young patient with medulloblastoma. 12684657

2003
dbSNP: rs878854066
rs878854066
TP53
0.020 GeneticVariation BEFREE Loss of heterozygosity and p53 polymorphism Pro72Arg in a young patient with medulloblastoma. 12684657

2003