Source: CURATED

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs10062657
rs10062657
CAST ; LOC101929710
CUI: C1305855
Disease: Body mass index
Body mass index 		A 0.700 GeneticVariation GWASCAT Genome-wide association study identifies 112 new loci for body mass index in the Japanese population. 28892062

2017
dbSNP: rs10083460
rs10083460
EGLN3 ; LOC105370446 ; LOC107987210
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: rs10083460
rs10083460
EGLN3 ; LOC105370446 ; LOC107987210
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: rs116969723
rs116969723
LRRC3 ; LRRC3-DT
CUI: C0007766
Disease: Intracranial Aneurysm
Intracranial Aneurysm 		G 0.700 GeneticVariation GWASCAT Genomic Variations in Susceptibility to Intracranial Aneurysm in the Korean Population. 30823506

2019
dbSNP: rs11853189
rs11853189
DNAJA4 ; LOC105370910
CUI: C1304746
Disease: RDW - Red blood cell distribution width result
RDW - Red blood cell distribution width result 		T 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252

2016
dbSNP: rs11853189
rs11853189
DNAJA4 ; LOC105370910
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		T 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252

2016
dbSNP: rs11951673
rs11951673
CAST ; LOC101929710
CUI: C0005893
Disease: Body mass index procedure
Body mass index procedure 		0.700 GeneticVariation GWASDB Meta-analysis identifies common variants associated with body mass index in east Asians. 22344219

2012
dbSNP: rs11951673
rs11951673
CAST ; LOC101929710
CUI: C0578022
Disease: Finding of body mass index
Finding of body mass index 		0.700 GeneticVariation GWASDB Meta-analysis identifies common variants associated with body mass index in east Asians. 22344219

2012
dbSNP: rs11951673
rs11951673
CAST ; LOC101929710
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: rs12125471
rs12125471
NEGR1 ; ZRANB2-AS2
CUI: C0021704
Disease: Intelligence
Intelligence 		T 0.700 GeneticVariation GWASCAT A combined analysis of genetically correlated traits identifies 187 loci and a role for neurogenesis and myelination in intelligence. 29326435

2019
dbSNP: rs12722725
rs12722725
PPM1J ; LOC105378910
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		T 0.700 GeneticVariation GWASCAT Mapping eGFR loci to the renal transcriptome and phenome in the VA Million Veteran Program. 31451708

2019
dbSNP: rs12722725
rs12722725
PPM1J ; LOC105378910
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		C 0.700 GeneticVariation GWASCAT Sex-specific and pleiotropic effects underlying kidney function identified from GWAS meta-analysis. 31015462

2019
dbSNP: rs12722725
rs12722725
PPM1J ; LOC105378910
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		C 0.700 GeneticVariation GWASCAT Trans-ethnic kidney function association study reveals putative causal genes and effects on kidney-specific disease aetiologies. 30604766

2019
dbSNP: rs12736457
rs12736457
PPM1J ; LOC105378910
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		C 0.700 GeneticVariation GWASCAT A catalog of genetic loci associated with kidney function from analyses of a million individuals. 31152163

2019
dbSNP: rs137852821
rs137852821
PCSK1 ; LOC101929710
CUI: C1833053
Disease: Proprotein Convertase 1 3 Deficiency
Proprotein Convertase 1 3 Deficiency 		0.800 GeneticVariation UNIPROT Obesity and impaired prohormone processing associated with mutations in the human prohormone convertase 1 gene. 9207799

1997
dbSNP: rs137852821
rs137852821
PCSK1 ; LOC101929710
CUI: C1833053
Disease: Proprotein Convertase 1 3 Deficiency
Proprotein Convertase 1 3 Deficiency 		0.800 GeneticVariation UNIPROT Small-intestinal dysfunction accompanies the complex endocrinopathy of human proprotein convertase 1 deficiency. 14617756

2003
dbSNP: rs137852821
rs137852821
PCSK1 ; LOC101929710
CUI: C1833053
Disease: Proprotein Convertase 1 3 Deficiency
Proprotein Convertase 1 3 Deficiency 		T 0.800 CausalMutation CLINVAR

dbSNP: rs137852821
rs137852821
PCSK1 ; LOC101929710
CUI: C1833053
Disease: Proprotein Convertase 1 3 Deficiency
Proprotein Convertase 1 3 Deficiency 		0.800 GeneticVariation UNIPROT Hyperphagia and early-onset obesity due to a novel homozygous missense mutation in prohormone convertase 1/3. 17595246

2007
dbSNP: rs137852822
rs137852822
PCSK1 ; LOC101929710
CUI: C1833053
Disease: Proprotein Convertase 1 3 Deficiency
Proprotein Convertase 1 3 Deficiency 		A 0.700 CausalMutation CLINVAR

dbSNP: rs137852823
rs137852823
PCSK1 ; LOC101929710
CUI: C1833053
Disease: Proprotein Convertase 1 3 Deficiency
Proprotein Convertase 1 3 Deficiency 		C 0.700 CausalMutation CLINVAR

dbSNP: rs137852824
rs137852824
PCSK1 ; LOC101929710
CUI: C1833053
Disease: Proprotein Convertase 1 3 Deficiency
Proprotein Convertase 1 3 Deficiency 		A 0.800 CausalMutation CLINVAR

dbSNP: rs137852824
rs137852824
PCSK1 ; LOC101929710
CUI: C1833053
Disease: Proprotein Convertase 1 3 Deficiency
Proprotein Convertase 1 3 Deficiency 		0.800 GeneticVariation UNIPROT Hyperphagia and early-onset obesity due to a novel homozygous missense mutation in prohormone convertase 1/3. 17595246

2007
dbSNP: rs137852824
rs137852824
PCSK1 ; LOC101929710
CUI: C1833053
Disease: Proprotein Convertase 1 3 Deficiency
Proprotein Convertase 1 3 Deficiency 		0.800 GeneticVariation UNIPROT Small-intestinal dysfunction accompanies the complex endocrinopathy of human proprotein convertase 1 deficiency. 14617756

2003
dbSNP: rs137852824
rs137852824
PCSK1 ; LOC101929710
CUI: C1833053
Disease: Proprotein Convertase 1 3 Deficiency
Proprotein Convertase 1 3 Deficiency 		0.800 GeneticVariation UNIPROT Obesity and impaired prohormone processing associated with mutations in the human prohormone convertase 1 gene. 9207799

1997
dbSNP: rs1558087712
rs1558087712
ARF1 ; MIR3620
CUI: C4748602
Disease: PERIVENTRICULAR NODULAR HETEROTOPIA 8
PERIVENTRICULAR NODULAR HETEROTOPIA 8 		A 0.700 CausalMutation CLINVAR