AKAP7, A-kinase anchoring protein 7, 9465

N. diseases: 13; N. variants: 2
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: rs602848
rs602848 		6 131125651 regulatory region variant C/A;G;T snv
CUI: C0149931
Disease: Migraine Disorders
Migraine Disorders 		Nervous System Diseases 0.800 1.000 1 2013 2013
dbSNP: rs1729549
rs1729549 		0.925 0.040 6 131185025 non coding transcript exon variant C/A;T snv
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis 		Musculoskeletal Diseases 0.700 1.000 1 2018 2018
dbSNP: rs1729549
rs1729549 		0.925 0.040 6 131185025 non coding transcript exon variant C/A;T snv
CUI: C1837461
Disease: SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 		0.700 1.000 1 2018 2018