Source: CURATED

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs879036238
rs879036238
ARF1 ; MIR3620
CUI: C4748602
Disease: PERIVENTRICULAR NODULAR HETEROTOPIA 8
PERIVENTRICULAR NODULAR HETEROTOPIA 8 		C 0.800 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: rs137852821
rs137852821
PCSK1 ; LOC101929710
CUI: C1833053
Disease: Proprotein Convertase 1 3 Deficiency
Proprotein Convertase 1 3 Deficiency 		T 0.800 CausalMutation CLINVAR

dbSNP: rs201871537
rs201871537
DST ; DST-AS1
CUI: C3539003
Disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1558087795
rs1558087795
ARF1 ; MIR3620
CUI: C4748602
Disease: PERIVENTRICULAR NODULAR HETEROTOPIA 8
PERIVENTRICULAR NODULAR HETEROTOPIA 8 		G 0.700 CausalMutation CLINVAR

dbSNP: rs1558087712
rs1558087712
ARF1 ; MIR3620
CUI: C4748602
Disease: PERIVENTRICULAR NODULAR HETEROTOPIA 8
PERIVENTRICULAR NODULAR HETEROTOPIA 8 		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: rs137852822
rs137852822
PCSK1 ; LOC101929710
CUI: C1833053
Disease: Proprotein Convertase 1 3 Deficiency
Proprotein Convertase 1 3 Deficiency 		A 0.700 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: 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: rs958476
rs958476
BARX2 ; LOC107984410
CUI: C0024143
Disease: Lupus Nephritis
Lupus Nephritis 		0.700 GeneticVariation GWASCAT Response to Intravenous Cyclophosphamide Treatment for Lupus Nephritis Associated with Polymorphisms in the FCGR2B-FCRLA Locus. 26980576

2016
dbSNP: rs958476
rs958476
BARX2 ; LOC107984410
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.700 GeneticVariation GWASCAT Response to Intravenous Cyclophosphamide Treatment for Lupus Nephritis Associated with Polymorphisms in the FCGR2B-FCRLA Locus. 26980576

2016
dbSNP: rs843750
rs843750
ACYP2 ; LOC105374610
CUI: C0005890
Disease: Body Height
Body Height 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370

2019
dbSNP: rs6755777
rs6755777
HAGLR ; HAGLROS
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		T 0.700 GeneticVariation GWASCAT Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer. 28346442

2017
dbSNP: rs6755777
rs6755777
HAGLR ; HAGLROS
CUI: C1335167
Disease: Ovarian Mucinous Adenocarcinoma
Ovarian Mucinous Adenocarcinoma 		T 0.700 GeneticVariation GWASCAT Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer. 28346442

2017
dbSNP: rs6755777
rs6755777
HAGLR ; HAGLROS
CUI: C1335177
Disease: Ovarian Serous Adenocarcinoma
Ovarian Serous Adenocarcinoma 		T 0.700 GeneticVariation GWASCAT Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer. 28346442

2017
dbSNP: rs631844
rs631844
LINC02109 ; LOC107986410
CUI: C0423791
Disease: Maculopapular Lesion
Maculopapular Lesion 		T 0.700 GeneticVariation GWASCAT GWAS identifies two susceptibility loci for lamotrigine-induced skin rash in patients with epilepsy. 26220383

2015
dbSNP: rs631844
rs631844
LINC02109 ; LOC107986410
CUI: C0014544
Disease: Epilepsy
Epilepsy 		T 0.700 GeneticVariation GWASCAT GWAS identifies two susceptibility loci for lamotrigine-induced skin rash in patients with epilepsy. 26220383

2015
dbSNP: rs6235
rs6235
PCSK1 ; LOC101929710
CUI: C0428568
Disease: Fasting blood glucose measurement
Fasting blood glucose measurement 		G 0.700 GeneticVariation GWASCAT Identification of HKDC1 and BACE2 as genes influencing glycemic traits during pregnancy through genome-wide association studies. 23903356

2013
dbSNP: rs6235
rs6235
PCSK1 ; LOC101929710
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370

2019
dbSNP: rs6235
rs6235
PCSK1 ; LOC101929710
CUI: C0424678
Disease: Lean body mass
Lean body mass 		0.700 GeneticVariation GWASCAT Genomics of body fat percentage may contribute to sex bias in anorexia nervosa. 30593698

2019
dbSNP: rs6235
rs6235
PCSK1 ; LOC101929710
CUI: C1305855
Disease: Body mass index
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: rs6234
rs6234
PCSK1 ; LOC101929710
CUI: C1305855
Disease: Body mass index
Body mass index 		C 0.700 GeneticVariation GWASCAT Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity. 29273807

2018