ATP7A, ATPase copper transporting alpha, 538

N. diseases: 348; N. variants: 107
Disease: Spinal Muscular Atrophy, Distal, X-Linked 3 ×
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: rs797045397
rs797045397 		0.882 0.240 X 77988541 frameshift variant AG/- delins
CUI: C1845359
Disease: Spinal Muscular Atrophy, Distal, X-Linked 3
Spinal Muscular Atrophy, Distal, X-Linked 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0