Source: CURATED

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

2017
dbSNP: rs1060505034
rs1060505034
RPS23 ; ATG10 ; ATP6AP1L
CUI: C4479431
Disease: BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY
BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY 		T 0.800 CausalMutation CLINVAR

dbSNP: rs658912
rs658912
ATP6AP1L
CUI: C0596887
Disease: mathematical ability
mathematical ability 		A 0.700 GeneticVariation GWASCAT Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals. 30038396

2018