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: rs202101384
rs202101384
0.851 0.160 1 17044818 missense variant T/A snv 4.4E-05 1.4E-05
CUI: C0023520
Disease: Leukodystrophy
Leukodystrophy
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2012 2012