Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs10243383
rs10243383
Entrez Id: 9771
Gene Symbol: RAPGEF5
RAPGEF5
CUI: C1269683
Disease:
Major Depressive Disorder
T 0.700 GeneticVariation GWASCAT GWAS and systems biology analysis of depressive symptoms among smokers from the COPDGene cohort. 30219690 2019
dbSNP: rs10243383
rs10243383
Entrez Id: 9771
Gene Symbol: RAPGEF5
RAPGEF5
CUI: C0037369
Disease:
Smoking
T 0.700 GeneticVariation GWASCAT GWAS and systems biology analysis of depressive symptoms among smokers from the COPDGene cohort. 30219690 2019
dbSNP: rs113432289
rs113432289
Entrez Id: 9771
Gene Symbol: RAPGEF5
RAPGEF5
CUI: C0017601
Disease:
Glaucoma
C 0.700 GeneticVariation GWASCAT Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies. 30104761 2018
dbSNP: rs1300260120
rs1300260120
Entrez Id: 9771
Gene Symbol: RAPGEF5
RAPGEF5
CUI: C0598608
Disease:
Hyperhomocysteinemia
0.020 GeneticVariation BEFREE The methylenetetrahydrofolate reductase C677T genotype was not a predictor of hyperhomocysteinemia or CAC status. 16802358 2006
dbSNP: rs1300260120
rs1300260120
Entrez Id: 9771
Gene Symbol: RAPGEF5
RAPGEF5
CUI: C0598608
Disease:
Hyperhomocysteinemia
0.020 GeneticVariation BEFREE To assess whether MTHFR gene polymorphism (C677T) by causing hyperhomocysteinemia affects the retinal AVR in type 2 diabetic and non-diabetic subjects. 12356186 2002
dbSNP: rs773113888
rs773113888
Entrez Id: 9771
Gene Symbol: RAPGEF5
RAPGEF5
CUI: C0242383
Disease:
Age related macular degeneration
0.010 GeneticVariation BEFREE Next generation sequencing (NGS) showed polymorphism in CFH (p.V62I in SCR1) and THBD (p.A473V), already known as pathogenic for C3GN, as well as a mutation in C3 (p.R102G) associated only with age-related macular degeneration (AMD) so far. 29592796 2018
dbSNP: rs6461639
rs6461639
Entrez Id: 9771
Gene Symbol: RAPGEF5
RAPGEF5
CUI: C0023449
Disease:
Acute lymphocytic leukemia
0.010 GeneticVariation BEFREE Among them, rs6461639 (interaction P=1.88 × 10<sup>-5</sup> in the CAMP population) showed a significant association with the final BMD Z-scores in the ALL population (P=0.016). 26856247 2017
dbSNP: rs6461639
rs6461639
Entrez Id: 9771
Gene Symbol: RAPGEF5
RAPGEF5
CUI: C0023452
Disease:
Childhood Acute Lymphoblastic Leukemia
0.010 GeneticVariation BEFREE Among them, rs6461639 (interaction P=1.88 × 10<sup>-5</sup> in the CAMP population) showed a significant association with the final BMD Z-scores in the ALL population (P=0.016). 26856247 2017
dbSNP: rs6461639
rs6461639
Entrez Id: 9771
Gene Symbol: RAPGEF5
RAPGEF5
CUI: C0751606
Disease:
Adult Acute Lymphocytic Leukemia
0.010 GeneticVariation BEFREE Among them, rs6461639 (interaction P=1.88 × 10<sup>-5</sup> in the CAMP population) showed a significant association with the final BMD Z-scores in the ALL population (P=0.016). 26856247 2017