Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs17093914
rs17093914
Entrez Id: 1743
Gene Symbol: DLST
DLST
CUI: C0027769
Disease:
Nervousness 		T 0.700 GeneticVariation GWASCAT Item-level analyses reveal genetic heterogeneity in neuroticism. 29500382 2018
dbSNP: rs28426374
rs28426374
Entrez Id: 1743
Gene Symbol: DLST
DLST
CUI: C0003467
Disease:
Anxiety 		T 0.700 GeneticVariation GWASCAT Meta-analysis of genome-wide association studies for neuroticism in 449,484 individuals identifies novel genetic loci and pathways. 29942085 2018
dbSNP: rs17093914
rs17093914
Entrez Id: 1743
Gene Symbol: DLST
DLST
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute 		C 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
dbSNP: rs2070598
rs2070598
Entrez Id: 1743
Gene Symbol: DLST
DLST
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute 		A 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
dbSNP: rs2070599
rs2070599
Entrez Id: 1743
Gene Symbol: DLST
DLST
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute 		G 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
dbSNP: rs2080087
rs2080087
Entrez Id: 1743
Gene Symbol: DLST
DLST
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute 		G 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
dbSNP: rs2300596
rs2300596
Entrez Id: 1743
Gene Symbol: DLST
DLST
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute 		C 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
dbSNP: rs2300599
rs2300599
Entrez Id: 1743
Gene Symbol: DLST
DLST
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute 		T 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
dbSNP: rs8007114
rs8007114
Entrez Id: 1743
Gene Symbol: DLST
DLST
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute 		T 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
dbSNP: rs1270341616
rs1270341616
Entrez Id: 1743
Gene Symbol: DLST
DLST
CUI: C0027651
Disease:
Neoplasms 		0.010 GeneticVariation BEFREE A recurrent variant, c.1121G>A (p.Gly374Glu), found in four of the eight individuals triggered accumulation of 2-hydroxyglutarate, both in tumors and in a heterologous cell-based assay designed to functionally evaluate DLST variants. p.Gly374Glu-DLST tumors exhibited loss of heterozygosity, and their methylation and expression profiles are similar to those of EPAS1-mutated PPGLs; this similarity suggests a link between DLST disruption and pseudohypoxia. 30929736 2019