Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs11647428
rs11647428
Entrez Id: 114780
Gene Symbol: PKD1L2
PKD1L2
CUI: C0523677
Disease:
Glycine measurement
G 0.700 GeneticVariation GWASCAT Assessing the causal association of glycine with risk of cardio-metabolic diseases. 30837465 2019
dbSNP: rs16954688
rs16954688
Entrez Id: 114780
Gene Symbol: PKD1L2
PKD1L2
CUI: C0523677
Disease:
Glycine measurement
G 0.700 GeneticVariation GWASCAT Assessing the causal association of glycine with risk of cardio-metabolic diseases. 30837465 2019
dbSNP: rs4520846
rs4520846
Entrez Id: 114780
Gene Symbol: PKD1L2
PKD1L2
CUI: C0523677
Disease:
Glycine measurement
A 0.700 GeneticVariation GWASCAT Assessing the causal association of glycine with risk of cardio-metabolic diseases. 30837465 2019
dbSNP: rs62051533
rs62051533
Entrez Id: 114780
Gene Symbol: PKD1L2
PKD1L2
CUI: C0523677
Disease:
Glycine measurement
C 0.700 GeneticVariation GWASCAT Assessing the causal association of glycine with risk of cardio-metabolic diseases. 30837465 2019
dbSNP: rs8059153
rs8059153
Entrez Id: 114780
Gene Symbol: PKD1L2
PKD1L2
CUI: C0523677
Disease:
Glycine measurement
T 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: rs8059153
rs8059153
Entrez Id: 114780
Gene Symbol: PKD1L2
PKD1L2
CUI: C0201874
Disease:
Amino acids measurement
T 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: rs55788414
rs55788414
Entrez Id: 114780
Gene Symbol: PKD1L2
PKD1L2
CUI: C4551854
Disease:
HYPOPLASTIC LEFT HEART SYNDROME 1
0.700 GeneticVariation GWASCAT Genome-Wide Association Studies and Meta-Analyses for Congenital Heart Defects. 28468790 2017
dbSNP: rs55788414
rs55788414
Entrez Id: 114780
Gene Symbol: PKD1L2
PKD1L2
CUI: C3280795
Disease:
HYPOPLASTIC LEFT HEART SYNDROME 2
0.700 GeneticVariation GWASCAT Genome-Wide Association Studies and Meta-Analyses for Congenital Heart Defects. 28468790 2017