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: rs1554879741
rs1554879741
0.851 0.120 10 71819093 stop gained C/A snv
KRABBE DISEASE, ATYPICAL, DUE TO SAPOSIN A DEFICIENCY
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0