Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs11130760
rs11130760
FHIT
CUI: C0220641
Disease: Lip and Oral Cavity Carcinoma
Lip and Oral Cavity Carcinoma 		T 0.710 GeneticVariation CLINVAR The SNP rs11130760 wild-type (WT) allele G indicated an increased risk for oral cancer (OR 1.38; 95% CI 1.09-1.73), whereas SNP allele T indicated a decreased risk (OR 0.73; 95% CI 0.58-0.92) for oral cancer. 28580594

2017
dbSNP: rs11130760
rs11130760
FHIT
CUI: C0220641
Disease: Lip and Oral Cavity Carcinoma
Lip and Oral Cavity Carcinoma 		0.710 GeneticVariation BEFREE The SNP rs11130760 wild-type (WT) allele G indicated an increased risk for oral cancer (OR 1.38; 95% CI 1.09-1.73), whereas SNP allele T indicated a decreased risk (OR 0.73; 95% CI 0.58-0.92) for oral cancer. 28580594

2017
dbSNP: rs10222378
rs10222378
FHIT
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
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: rs10428174
rs10428174
FHIT
CUI: C0233849
Disease: Personality Traits
Personality Traits 		0.700 GeneticVariation GWASDB Genome-wide association uncovers shared genetic effects among personality traits and mood states. 22628180

2012
dbSNP: rs1079196
rs1079196
FHIT
CUI: C0233849
Disease: Personality Traits
Personality Traits 		0.700 GeneticVariation GWASDB Genome-wide association uncovers shared genetic effects among personality traits and mood states. 22628180

2012
dbSNP: rs11920657
rs11920657
FHIT
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis 		0.700 GeneticVariation GWASCAT The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease. 30019117

2018
dbSNP: rs11920657
rs11920657
FHIT
CUI: C1837461
Disease: SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 		0.700 GeneticVariation GWASCAT The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease. 30019117

2018
dbSNP: rs11922368
rs11922368
FHIT
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		C 0.700 GeneticVariation GWASCAT Co-regulatory networks of human serum proteins link genetics to disease. 30072576

2018
dbSNP: rs13061562
rs13061562
FHIT
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
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: rs1353545
rs1353545
FHIT
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		C 0.700 GeneticVariation GWASCAT Genome-Wide Association Study Detected Novel Susceptibility Genes for Schizophrenia and Shared Trans-Populations/Diseases Genetic Effect. 30285260

2019
dbSNP: rs1353545
rs1353545
FHIT
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		C 0.700 GeneticVariation GWASCAT Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia. 28540026

2017
dbSNP: rs1353545
rs1353545
FHIT
CUI: C0008074
Disease: Child Development Disorders, Pervasive
Child Development Disorders, Pervasive 		C 0.700 GeneticVariation GWASCAT Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia. 28540026

2017
dbSNP: rs1353545
rs1353545
FHIT
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		C 0.700 GeneticVariation GWASCAT Genome-wide association analysis identifies 30 new susceptibility loci for schizophrenia. 28991256

2017
dbSNP: rs1353545
rs1353545
FHIT
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		C 0.700 GeneticVariation GWASCAT Genome-wide association study of schizophrenia in Ashkenazi Jews. 26198764

2015
dbSNP: rs138741635
rs138741635
FHIT
CUI: C0948089
Disease: Acute Coronary Syndrome
Acute Coronary Syndrome 		A 0.700 GeneticVariation GWASCAT Pharmacogenetic meta-analysis of baseline risk factors, pharmacodynamic, efficacy and tolerability endpoints from two large global cardiovascular outcomes trials for darapladib. 28753643

2017
dbSNP: rs138741635
rs138741635
FHIT
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		A 0.700 GeneticVariation GWASCAT Pharmacogenetic meta-analysis of baseline risk factors, pharmacodynamic, efficacy and tolerability endpoints from two large global cardiovascular outcomes trials for darapladib. 28753643

2017
dbSNP: rs139239158
rs139239158
FHIT
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		0.700 GeneticVariation GWASCAT Radiogenomics Consortium Genome-Wide Association Study Meta-Analysis of Late Toxicity After Prostate Cancer Radiotherapy. 31095341

2020
dbSNP: rs141954845
rs141954845
FHIT
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		A 0.700 GeneticVariation GWASCAT Genome-wide meta-analysis of depression identifies 102 independent variants and highlights the importance of the prefrontal brain regions. 30718901

2019
dbSNP: rs1554600
rs1554600
FHIT
CUI: C0007766
Disease: Intracranial Aneurysm
Intracranial Aneurysm 		0.700 GeneticVariation GWASCAT Genome-wide association analysis identifies new candidate risk loci for familial intracranial aneurysm in the French-Canadian population. 29531279

2018
dbSNP: rs17257269
rs17257269
FHIT
CUI: C0027404
Disease: Narcolepsy
Narcolepsy 		0.700 GeneticVariation GWASDB Genome-wide association database developed in the Japanese Integrated Database Project. 19629137

2009
dbSNP: rs1916799
rs1916799
FHIT
CUI: C1305855
Disease: Body mass index
Body mass index 		A 0.700 GeneticVariation GWASCAT Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits. 28552196

2017
dbSNP: rs1916799
rs1916799
FHIT
CUI: C0005910
Disease: Body Weight
Body Weight 		A 0.700 GeneticVariation GWASCAT Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits. 28552196

2017
dbSNP: rs1916799
rs1916799
FHIT
CUI: C0455829
Disease: Waist Circumference
Waist Circumference 		A 0.700 GeneticVariation GWASCAT Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits. 28552196

2017
dbSNP: rs1916801
rs1916801
FHIT
CUI: C1305855
Disease: Body mass index
Body mass index 		A 0.700 GeneticVariation GWASCAT Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry. 30239722

2019
dbSNP: rs1965143
rs1965143
FHIT
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
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