CEP57, centrosomal protein 57, 9702

N. diseases: 89; N. variants: 9
Disease: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1166323407
rs1166323407
Entrez Id: 9702
Gene Symbol: CEP57
CEP57
CUI: C3279843
Disease:
MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2 		TAGCCAATGTTC 0.700 CausalMutation CLINVAR