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: 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: rs61754966
rs61754966
NBN
0.020 GeneticVariation BEFREE Among children with solid tumors only in 1 child with medulloblastoma I171V variant has been found. 21436738

2011
dbSNP: rs144848
rs144848
BRCA2
0.010 GeneticVariation BEFREE An Asn372His homozygous variation was noted in the BRCA2 gene in the patient with medulloblastoma whereas the variation was heterozygous in the healthy father. 22044372

2011
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: rs1554841447
rs1554841447
SUFU
A 0.700 GeneticVariation CLINVAR Germline mutations in SUFU cause Gorlin syndrome-associated childhood medulloblastoma and redefine the risk associated with PTCH1 mutations. 25403219

2014
dbSNP: rs1564676479
rs1564676479
SUFU
A 0.700 GeneticVariation CLINVAR Germline mutations in SUFU cause Gorlin syndrome-associated childhood medulloblastoma and redefine the risk associated with PTCH1 mutations. 25403219

2014
dbSNP: rs587776578
rs587776578
SUFU
A 0.700 CausalMutation CLINVAR Germline mutations in SUFU cause Gorlin syndrome-associated childhood medulloblastoma and redefine the risk associated with PTCH1 mutations. 25403219

2014
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: rs587776578
rs587776578
SUFU
A 0.700 CausalMutation CLINVAR Heterogeneity of familial medulloblastoma and contribution of germline PTCH1 and SUFU mutations to sporadic medulloblastoma. 21188540

2011
dbSNP: rs1554841447
rs1554841447
SUFU
A 0.700 GeneticVariation CLINVAR High frequency of germline SUFU mutations in children with desmoplastic/nodular medulloblastoma younger than 3 years of age. 22508808

2012