Disease: Mosaic variegated aneuploidy syndrome 1 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28989184
rs28989184
Entrez Id: 701;56924;106821730;107984763
Gene Symbol: BUB1B;PAK6;BUB1B-PAK6;LOC107984763
BUB1B;PAK6;BUB1B-PAK6;LOC107984763
CUI: C1850343
Disease:
Mosaic variegated aneuploidy syndrome 1 		0.700 GeneticVariation UNIPROT Constitutional aneuploidy and cancer predisposition caused by biallelic mutations in BUB1B. 15475955 2004