Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587777706
rs587777706
BMS1
0.810 GeneticVariation UNIPROT Mutations that affect ribosomal function can result in a cell cycle defect and ACC skin fibroblasts with the BMS1 p.R930H mutation show a reduced cell proliferation rate due to a p21-mediated G1/S phase transition delay. 23785305

2013
dbSNP: rs587777706
rs587777706
BMS1
0.810 GeneticVariation BEFREE Mutations that affect ribosomal function can result in a cell cycle defect and ACC skin fibroblasts with the BMS1 p.R930H mutation show a reduced cell proliferation rate due to a p21-mediated G1/S phase transition delay. 23785305

2013
dbSNP: rs587777706
rs587777706
BMS1
A 0.810 CausalMutation CLINVAR