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: rs113994063
rs113994063
0.882 0.160 3 184140517 missense variant C/G;T snv 1.6E-05 2.8E-05
CUI: C0023520
Disease: Leukodystrophy
Leukodystrophy
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0