ISCA1, iron-sulfur cluster assembly 1, 81689

N. diseases: 23; N. variants: 6
Disease: Leukodystrophy ×
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: rs776679653
rs776679653 		0.827 0.200 9 86266174 missense variant C/T snv 4.2E-06
CUI: C0023520
Disease: Leukodystrophy
Leukodystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 1 2017 2017