Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1060505034
rs1060505034
Entrez Id: 6228;83734;92270
Gene Symbol: RPS23;ATG10;ATP6AP1L
RPS23;ATG10;ATP6AP1L
CUI: C4479431
Disease:
BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY
0.800 GeneticVariation UNIPROT A Ribosomopathy Reveals Decoding Defective Ribosomes Driving Human Dysmorphism. 28257692 2017
dbSNP: rs1060505034
rs1060505034
Entrez Id: 6228;83734;92270
Gene Symbol: RPS23;ATG10;ATP6AP1L
RPS23;ATG10;ATP6AP1L
CUI: C4479431
Disease:
BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY
T 0.800 CausalMutation CLINVAR