ARF1, ADP ribosylation factor 1, 375

N. diseases: 61; N. variants: 4
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs879036238
rs879036238
Entrez Id: 375;100500810
Gene Symbol: ARF1;MIR3620
ARF1;MIR3620
CUI: C4748602
Disease:
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
Entrez Id: 375;100500810
Gene Symbol: ARF1;MIR3620
ARF1;MIR3620
CUI: C4748602
Disease:
PERIVENTRICULAR NODULAR HETEROTOPIA 8 		C 0.800 CausalMutation CLINVAR
dbSNP: rs12029076
rs12029076
Entrez Id: 375
Gene Symbol: ARF1
ARF1
CUI: C1837461
Disease:
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 		G 0.700 GeneticVariation GWASCAT Genome-wide association study identifies 14 previously unreported susceptibility loci for adolescent idiopathic scoliosis in Japanese. 31417091 2019
dbSNP: rs12029076
rs12029076
Entrez Id: 375
Gene Symbol: ARF1
ARF1
CUI: C0410702
Disease:
Adolescent idiopathic scoliosis 		G 0.700 GeneticVariation GWASCAT Genome-wide association study identifies 14 previously unreported susceptibility loci for adolescent idiopathic scoliosis in Japanese. 31417091 2019
dbSNP: rs1558087712
rs1558087712
Entrez Id: 375;100500810
Gene Symbol: ARF1;MIR3620
ARF1;MIR3620
CUI: C4748602
Disease:
PERIVENTRICULAR NODULAR HETEROTOPIA 8 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1558087795
rs1558087795
Entrez Id: 375;100500810
Gene Symbol: ARF1;MIR3620
ARF1;MIR3620
CUI: C4748602
Disease:
PERIVENTRICULAR NODULAR HETEROTOPIA 8 		G 0.700 CausalMutation CLINVAR