Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs122453121
rs122453121
GPC3
A 0.700 CausalMutation CLINVAR Somatic CTNNB1 mutation in hepatoblastoma from a patient with Simpson-Golabi-Behmel syndrome and germline GPC3 mutation. 24459012

2014
dbSNP: rs122453121
rs122453121
GPC3
A 0.700 CausalMutation CLINVAR Germinal mosaicism in Simpson-Golabi-Behmel syndrome. 17850639

2007
dbSNP: rs122453121
rs122453121
GPC3
A 0.700 CausalMutation CLINVAR GPC3 mutations in seven patients with Simpson-Golabi-Behmel syndrome. 17603795

2007