Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1000005
rs1000005
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure
C 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252

2016

dbSNP: rs10000770
rs10000770
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
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: rs1000091588
rs1000091588
SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS 1
T 0.700 CausalMutation CLINVAR Clinical and mutational profile in spinal muscular atrophy with respiratory distress (SMARD): defining novel phenotypes through hierarchical cluster analysis. 17431882

2007

dbSNP: rs1000096
rs1000096
CUI: C1305855
Disease: Body mass index
Body mass index
T 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: rs10001106
rs10001106
CUI: C0003868
Disease: Arthritis, Gouty
Arthritis, Gouty
0.700 GeneticVariation GWASDB Multiple genetic loci influence serum urate levels and their relationship with gout and cardiovascular disease risk factors. 20884846

2010

dbSNP: rs10001106
rs10001106
CUI: C0003868
Disease: Arthritis, Gouty
Arthritis, Gouty
0.700 GeneticVariation GWASDB Genome-wide association analyses identify 18 new loci associated with serum urate concentrations. 23263486

2013

dbSNP: rs10001106
rs10001106
CUI: C0003868
Disease: Arthritis, Gouty
Arthritis, Gouty
0.700 GeneticVariation GWASDB Genome-wide association study for serum urate concentrations and gout among African Americans identifies genomic risk loci and a novel URAT1 loss-of-function allele. 21768215

2011

dbSNP: rs10001106
rs10001106
CUI: C0018099
Disease: Gout
Gout
0.700 GeneticVariation GWASDB Multiple genetic loci influence serum urate levels and their relationship with gout and cardiovascular disease risk factors. 20884846

2010

dbSNP: rs10001106
rs10001106
CUI: C0018099
Disease: Gout
Gout
0.700 GeneticVariation GWASDB Genome-wide association analyses identify 18 new loci associated with serum urate concentrations. 23263486

2013

dbSNP: rs10001106
rs10001106
CUI: C0018099
Disease: Gout
Gout
0.700 GeneticVariation GWASDB Genome-wide association study for serum urate concentrations and gout among African Americans identifies genomic risk loci and a novel URAT1 loss-of-function allele. 21768215

2011

dbSNP: rs10001106
rs10001106
CUI: C0202239
Disease: Uric acid measurement (procedure)
Uric acid measurement (procedure)
0.700 GeneticVariation GWASDB Meta-analysis of 28,141 individuals identifies common variants within five new loci that influence uric acid concentrations. 19503597

2009

dbSNP: rs1000113
rs1000113
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
T 0.840 GeneticVariation GWASDB Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. 17554300

2007

dbSNP: rs1000113
rs1000113
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
T 0.840 GeneticVariation GWASCAT Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. 17554300

2007

dbSNP: rs1000113
rs1000113
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.840 GeneticVariation BEFREE We replicated the previously reported associations between CD and rs1000113 and rs4958847, confirming that IRGM is a susceptibility locus only for CD, either adult- or early-onset in the Italian population; furthermore, we have also shown its influence on specific clinical features (fistulizing disease). 19098858

2009

dbSNP: rs1000113
rs1000113
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.840 GeneticVariation BEFREE Our analysis revealed an association of the IRGM SNPs rs13371189 (p = 0.02, OR 1.31 [95% CI 1.05-1.65]), rs10065172 = p.Leu105Leu (p = 0.016, OR 1.33 [95% CI 1.06-1.66]) and rs1000113 (p = 0.047, OR 1.27 [95% CI 1.01-1.61]) with CD susceptibility. 23365659

2013

dbSNP: rs1000113
rs1000113
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.840 GeneticVariation BEFREE Significant associations with Crohn's disease were noted with the T allele of rs1000113 (OR 1.46, 95% CI 1.12-1.90), T allele of rs9637876 (OR 1.25, 95% CI 1.005-1.561) and C allele of rs 13361189 (OR 1.33, 95% CI 1.07-1.669). 25191865

2014

dbSNP: rs1000113
rs1000113
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.840 GeneticVariation BEFREE IRGM rs1000113 and IRGM rs72553867 exhibited associations with early-onset CD as risk loci and defense loci, respectively. 25944217

2015

dbSNP: rs1000113
rs1000113
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.010 GeneticVariation BEFREE Allele and genotype frequencies of rs1000113 and rs4958847 were determined in 823 CD (265 younger than 19 years at diagnosis), 353 ulcerative colitis (UC) (130 younger than 19 years at diagnosis), and 578 controls. 19098858

2009

dbSNP: rs10001410
rs10001410
Attention deficit hyperactivity disorder
0.010 GeneticVariation BEFREE SNPs rs362990-<i>SNAP25</i> (T allele; <i>p</i> = 2.46 × 10<sup>-4</sup>), rs2282794-<i>FGF1</i> (A allele; <i>p</i> = 1.33 × 10<sup>-2</sup>), rs2122642-<i>ADGRL3</i> (C allele, <i>p</i> = 3.5 × 10<sup>-2</sup>), and <i>ADGRL3</i> haplotype CCC (markers rs1565902-rs10001410-rs2122642, OR = 1.74, <i>P</i><sub>permuted</sub> = 0.021) were significantly associated with ADHD. 31426340

2019

dbSNP: rs10001414
rs10001414
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: rs10001545
rs10001545
Alanine aminotransferase measurement
0.700 GeneticVariation GWASCAT Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases. 29403010

2018

dbSNP: rs10001545
rs10001545
Aspartate aminotransferase measurement
0.700 GeneticVariation GWASCAT Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases. 29403010

2018

dbSNP: rs10001545
rs10001545
Serum Alanine Aminotransferase Measurement
0.700 GeneticVariation GWASCAT Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases. 29403010

2018

dbSNP: rs10001632
rs10001632
CUI: C0003868
Disease: Arthritis, Gouty
Arthritis, Gouty
0.700 GeneticVariation GWASDB Genome-wide association analyses identify 18 new loci associated with serum urate concentrations. 23263486

2013

dbSNP: rs10001632
rs10001632
CUI: C0018099
Disease: Gout
Gout
0.700 GeneticVariation GWASDB Genome-wide association analyses identify 18 new loci associated with serum urate concentrations. 23263486

2013