JPH1, junctophilin 1, 56704

N. diseases: 29; N. variants: 4
Disease: Adolescent idiopathic scoliosis ×
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: rs13257503
rs13257503 		0.925 0.040 8 74308743 intron variant G/C snv 4.8E-02
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis 		Musculoskeletal Diseases 0.700 1.000 1 2018 2018