ARF1, ADP ribosylation factor 1, 375

N. diseases: 61; N. variants: 4
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs879036238
rs879036238 		1.000 1 228097217 missense variant T/C snv
CUI: C4748602
Disease: PERIVENTRICULAR NODULAR HETEROTOPIA 8
PERIVENTRICULAR NODULAR HETEROTOPIA 8 		0.800 1.000 1 2016 2016
dbSNP: rs12029076
rs12029076 		0.925 0.040 1 228084986 intron variant G/A;C snv
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis 		Musculoskeletal Diseases 0.700 1.000 1 2019 2019
dbSNP: rs12029076
rs12029076 		0.925 0.040 1 228084986 intron variant G/A;C snv
CUI: C1837461
Disease: SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 		0.700 1.000 1 2019 2019
dbSNP: rs1558087712
rs1558087712 		1.000 1 228097627 missense variant G/A snv
CUI: C4748602
Disease: PERIVENTRICULAR NODULAR HETEROTOPIA 8
PERIVENTRICULAR NODULAR HETEROTOPIA 8 		0.700 0
dbSNP: rs1558087795
rs1558087795 		1.000 1 228097710 missense variant A/G snv
CUI: C4748602
Disease: PERIVENTRICULAR NODULAR HETEROTOPIA 8
PERIVENTRICULAR NODULAR HETEROTOPIA 8 		0.700 0