Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1060505034
rs1060505034
RPS23 ; ATG10 ; ATP6AP1L
0.800 GeneticVariation UNIPROT A Ribosomopathy Reveals Decoding Defective Ribosomes Driving Human Dysmorphism. 28257692

2017
dbSNP: rs1060505035
rs1060505035
RPS23 ; ATG10
0.800 GeneticVariation UNIPROT A Ribosomopathy Reveals Decoding Defective Ribosomes Driving Human Dysmorphism. 28257692

2017
dbSNP: rs1060505034
rs1060505034
RPS23 ; ATG10 ; ATP6AP1L
T 0.800 CausalMutation CLINVAR

dbSNP: rs1060505035
rs1060505035
RPS23 ; ATG10
T 0.800 CausalMutation CLINVAR