Source: CURATED

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: 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 		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 		T 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: rs137852824
rs137852824
PCSK1 ; LOC101929710
CUI: C1833053
Disease: Proprotein Convertase 1 3 Deficiency
Proprotein Convertase 1 3 Deficiency 		A 0.800 CausalMutation CLINVAR

dbSNP: rs6235
rs6235
PCSK1 ; LOC101929710
CUI: C0202098
Disease: Insulin measurement
Insulin measurement 		G 0.800 GeneticVariation GWASCAT Exome array analysis identifies new loci and low-frequency variants influencing insulin processing and secretion. 23263489

2013
dbSNP: rs6235
rs6235
PCSK1 ; LOC101929710
CUI: C0202098
Disease: Insulin measurement
Insulin measurement 		G 0.800 GeneticVariation GWASCAT Genome-wide association identifies nine common variants associated with fasting proinsulin levels and provides new insights into the pathophysiology of type 2 diabetes. 21873549

2011
dbSNP: rs6235
rs6235
PCSK1 ; LOC101929710
CUI: C0202098
Disease: Insulin measurement
Insulin measurement 		G 0.800 GeneticVariation GWASDB Genome-wide association identifies nine common variants associated with fasting proinsulin levels and provides new insights into the pathophysiology of type 2 diabetes. 21873549

2011
dbSNP: rs879036238
rs879036238
ARF1 ; MIR3620
CUI: C4748602
Disease: PERIVENTRICULAR NODULAR HETEROTOPIA 8
PERIVENTRICULAR NODULAR HETEROTOPIA 8 		0.800 GeneticVariation UNIPROT Missense-depleted regions in population exomes implicate ras superfamily nucleotide-binding protein alteration in patients with brain malformation. 28868155

2016
dbSNP: rs879036238
rs879036238
ARF1 ; MIR3620
CUI: C4748602
Disease: PERIVENTRICULAR NODULAR HETEROTOPIA 8
PERIVENTRICULAR NODULAR HETEROTOPIA 8 		C 0.800 CausalMutation CLINVAR

dbSNP: rs2072590
rs2072590
HAGLR ; HAGLROS
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		0.720 GeneticVariation GWASDB GWAS meta-analysis and replication identifies three new susceptibility loci for ovarian cancer. 23535730

2013
dbSNP: rs2072590
rs2072590
HAGLR ; HAGLROS
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.720 GeneticVariation GWASCAT GWAS meta-analysis and replication identifies three new susceptibility loci for ovarian cancer. 23535730

2013
dbSNP: rs2072590
rs2072590
HAGLR ; HAGLROS
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		T 0.720 GeneticVariation GWASCAT A genome-wide association study identifies susceptibility loci for ovarian cancer at 2q31 and 8q24. 20852632

2010
dbSNP: rs2072590
rs2072590
HAGLR ; HAGLROS
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		T 0.720 GeneticVariation GWASDB A genome-wide association study identifies susceptibility loci for ovarian cancer at 2q31 and 8q24. 20852632

2010
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: 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: 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