Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs17450122
rs17450122
Entrez Id: 429
Gene Symbol: ASCL1
ASCL1
CUI: C0201874
Disease:
Amino acids measurement 		A 0.700 GeneticVariation GWASCAT Genetic basis for plasma amino acid concentrations based on absolute quantification: a genome-wide association study in the Japanese population. 30659259 2019
dbSNP: rs17450122
rs17450122
Entrez Id: 429
Gene Symbol: ASCL1
ASCL1
CUI: C0202174
Disease:
blood phenylalanine measurement by Guthrie microbiologic assay 		A 0.700 GeneticVariation GWASCAT Genetic basis for plasma amino acid concentrations based on absolute quantification: a genome-wide association study in the Japanese population. 30659259 2019
dbSNP: rs267606667
rs267606667
Entrez Id: 429;5053
Gene Symbol: ASCL1;PAH
ASCL1;PAH
CUI: C1275808
Disease:
Congenital central hypoventilation 		A 0.700 CausalMutation CLINVAR