Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121909146
rs121909146
SH3BP2
0.820 GeneticVariation BEFREE Transient expression of p.D419N (c.1255G>A), as well as three previously described exon 9 mutations from cherubism patients (p.R415Q (c.1244G>A), p.D420E (c.1259G>A), and p.P418R (c.1253C>G)) increased activity of NFAT (nuclear factor of activated T-cells), an osteoclastogenic mediator, indicating that cherubism results from gain of function mutations in SH3BP2. 16786512

2006
dbSNP: rs121909146
rs121909146
SH3BP2
0.820 GeneticVariation BEFREE The missense mutation Pro418Arg was identified in the SH3BP2 gene from a nonfamilial case of cherubism. 14577811

2003
dbSNP: rs121909146
rs121909146
SH3BP2
0.820 GeneticVariation UNIPROT The missense mutation Pro418Arg was identified in the SH3BP2 gene from a nonfamilial case of cherubism. 14577811

2003
dbSNP: rs121909146
rs121909146
SH3BP2
0.820 GeneticVariation UNIPROT Novel mutation in the gene encoding c-Abl-binding protein SH3BP2 causes cherubism. 12900899

2003
dbSNP: rs121909146
rs121909146
SH3BP2
0.820 GeneticVariation UNIPROT Mutations in the gene encoding c-Abl-binding protein SH3BP2 cause cherubism. 11381256

2001
dbSNP: rs121909146
rs121909146
SH3BP2
T 0.820 CausalMutation CLINVAR

dbSNP: rs121909146
rs121909146
SH3BP2
G 0.820 CausalMutation CLINVAR

dbSNP: rs121909146
rs121909146
SH3BP2
A 0.820 CausalMutation CLINVAR