MACROD2, mono-ADP ribosylhydrolase 2, 140733

N. diseases: 57; N. variants: 47
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs4141463
rs4141463
Entrez Id: 140733
Gene Symbol: MACROD2
MACROD2
CUI: C0004352
Disease:
Autistic Disorder
0.820 GeneticVariation BEFREE Therefore, this study does not provide support for the reported association between rs4141463 and autism. 21656903 2011
dbSNP: rs4141463
rs4141463
Entrez Id: 140733
Gene Symbol: MACROD2
MACROD2
CUI: C0004352
Disease:
Autistic Disorder
0.820 GeneticVariation BEFREE Therefore, this family-based association study was performed in 640 Chinese Han autism trios to investigate the association between autism and 7 SNPs with genome-wide significance in previous GWAS (rs4307059 near MSNP1AS, rs4141463 in MACROD2, rs2535629 in ITIH3, rs11191454 in AS3MT, rs1625579 in MIR137HG, rs11191580 in NT5C2, and rs1409313 in CUEDC2). 30610940 2019
dbSNP: rs4141463
rs4141463
Entrez Id: 140733
Gene Symbol: MACROD2
MACROD2
CUI: C1510586
Disease:
Autism Spectrum Disorders
0.020 GeneticVariation BEFREE No association between a common single nucleotide polymorphism, rs4141463, in the MACROD2 gene and autism spectrum disorder. 21656903 2011
dbSNP: rs4141463
rs4141463
Entrez Id: 140733
Gene Symbol: MACROD2
MACROD2
CUI: C1510586
Disease:
Autism Spectrum Disorders
0.020 GeneticVariation BEFREE In postmortem temporal cortex, expression of <i>RPS10P2-AS1</i> was increased 7-fold in individuals with ASD (P = 0.02) and increased 8-fold in individuals with the ASD-associated rs4141463 genotype (P = 0.01). 31681417 2019
dbSNP: rs2208454
rs2208454
Entrez Id: 140733
Gene Symbol: MACROD2
MACROD2
CUI: C4699508
Disease:
Cardioembolism (high-risk/medium-risk)
0.010 GeneticVariation BEFREE In subgroup analyses, SNP rs2208454 was significantly associated with large artery atherosclerosis (LAA) (TT vs. GG: adjusted OR = 2.16, 95% CI: 1.19-3.93), but failed to show significant association with small-artery occlusion or cardioembolism IS subtypes. 24954375 2014
dbSNP: rs2208454
rs2208454
Entrez Id: 140733
Gene Symbol: MACROD2
MACROD2
CUI: C0948008
Disease:
Ischemic stroke
0.010 GeneticVariation BEFREE Single nucleotide polymorphism rs2208454 confers an increased risk for IS in a southern Chinese Han population. 24954375 2014
dbSNP: rs2208454
rs2208454
Entrez Id: 140733
Gene Symbol: MACROD2
MACROD2
CUI: C4699512
Disease:
Large-artery atherosclerosis (embolus/thrombosis)
0.010 GeneticVariation BEFREE In subgroup analyses, SNP rs2208454 was significantly associated with large artery atherosclerosis (LAA) (TT vs. GG: adjusted OR = 2.16, 95% CI: 1.19-3.93), but failed to show significant association with small-artery occlusion or cardioembolism IS subtypes. 24954375 2014
dbSNP: rs4141463
rs4141463
Entrez Id: 140733
Gene Symbol: MACROD2
MACROD2
CUI: C0524528
Disease:
Pervasive Development Disorder
0.010 GeneticVariation BEFREE No association between a common single nucleotide polymorphism, rs4141463, in the MACROD2 gene and autism spectrum disorder. 21656903 2011
dbSNP: rs6110809
rs6110809
Entrez Id: 140733
Gene Symbol: MACROD2
MACROD2
CUI: C0018213
Disease:
Graves Disease
0.010 GeneticVariation BEFREE On combined analysis of discovery and replication cohorts, the minor A allele of rs6110809 was more frequent in TO than in Graves' disease controls without TO (P = 4.35 × 10-5; odds ratio [OR] = 1.77; 95% confidence interval [CI], 1.35-2.32) after adjusting for age, sex, duration of Graves' disease, and smoking. 27304844 2016
dbSNP: rs6110809
rs6110809
Entrez Id: 140733
Gene Symbol: MACROD2
MACROD2
CUI: C3495928
Disease:
Thyroid associated orbitopathy
0.010 GeneticVariation BEFREE On combined analysis of discovery and replication cohorts, the minor A allele of rs6110809</span> was more frequent in TO than in Graves' disease controls without TO (P = 4.35 × 10-5; odds ratio [OR] = 1.77; 95% confidence interval [CI], 1.35-2.32) after adjusting for age, sex, duration of Graves' disease, and smoking. 27304844 2016
dbSNP: rs398124654
rs398124654
Entrez Id: 23767;140733
Gene Symbol: FLRT3;MACROD2
FLRT3;MACROD2
CUI: C3808986
Disease:
HYPOGONADOTROPIC HYPOGONADISM 21 WITH OR WITHOUT ANOSMIA
C 0.800 CausalMutation CLINVAR
dbSNP: rs398124651
rs398124651
Entrez Id: 23767;140733
Gene Symbol: FLRT3;MACROD2
FLRT3;MACROD2
CUI: C4016902
Disease:
HYPOGONADOTROPIC HYPOGONADISM 21 WITH ANOSMIA, SUSCEPTIBILITY TO
C 0.700 SusceptibilityMutation CLINVAR
dbSNP: rs398124652
rs398124652
Entrez Id: 23767;140733
Gene Symbol: FLRT3;MACROD2
FLRT3;MACROD2
CUI: C4016902
Disease:
HYPOGONADOTROPIC HYPOGONADISM 21 WITH ANOSMIA, SUSCEPTIBILITY TO
A 0.700 SusceptibilityMutation CLINVAR
dbSNP: rs398124653
rs398124653
Entrez Id: 23767;140733
Gene Symbol: FLRT3;MACROD2
FLRT3;MACROD2
CUI: C4016902
Disease:
HYPOGONADOTROPIC HYPOGONADISM 21 WITH ANOSMIA, SUSCEPTIBILITY TO
T 0.700 SusceptibilityMutation CLINVAR
dbSNP: rs4141463
rs4141463
Entrez Id: 140733
Gene Symbol: MACROD2
MACROD2
CUI: C0004352
Disease:
Autistic Disorder
0.820 GeneticVariation GWASCAT A genome-wide scan for common alleles affecting risk for autism. 20663923 2010
dbSNP: rs6110278
rs6110278
Entrez Id: 140733
Gene Symbol: MACROD2
MACROD2
CUI: C0200665
Disease:
Platelet mean volume determination (procedure)
T 0.800 GeneticVariation GWASCAT A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium. 19820697 2009
dbSNP: rs1041606
rs1041606
Entrez Id: 140733
Gene Symbol: MACROD2
MACROD2
CUI: C0017654
Disease:
Glomerular Filtration Rate
T 0.700 GeneticVariation GWASCAT A catalog of genetic loci associated with kidney function from analyses of a million individuals. 31152163 2019
dbSNP: rs10485775
rs10485775
Entrez Id: 140733
Gene Symbol: MACROD2
MACROD2
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: rs11087114
rs11087114
Entrez Id: 140733;100379174
Gene Symbol: MACROD2;MACROD2-AS1
MACROD2;MACROD2-AS1
CUI: C0019693
Disease:
HIV Infections
A 0.700 GeneticVariation GWASCAT Genome-wide admixture and association study of subclinical atherosclerosis in the Women's Interagency HIV Study (WIHS). 29206233 2017
dbSNP: rs11907538
rs11907538
Entrez Id: 140733
Gene Symbol: MACROD2
MACROD2
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: rs11908097
rs11908097
Entrez Id: 140733
Gene Symbol: MACROD2
MACROD2
CUI: C2985280
Disease:
Blood Protein Measurement
C 0.700 GeneticVariation GWASCAT Genomic atlas of the human plasma proteome. 29875488 2018
dbSNP: rs11908351
rs11908351
Entrez Id: 140733
Gene Symbol: MACROD2
MACROD2
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: rs13038351
rs13038351
Entrez Id: 140733
Gene Symbol: MACROD2
MACROD2
CUI: C2985280
Disease:
Blood Protein Measurement
A 0.700 GeneticVariation GWASCAT Co-regulatory networks of human serum proteins link genetics to disease. 30072576 2018
dbSNP: rs16996644
rs16996644
Entrez Id: 140733
Gene Symbol: MACROD2
MACROD2
CUI: C1305855
Disease:
Body mass index
C 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: rs16996657
rs16996657
Entrez Id: 140733
Gene Symbol: MACROD2
MACROD2
CUI: C1305855
Disease:
Body mass index
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019