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: rs137852700
rs137852700
0.851 0.120 1 40089495 stop gained G/A;C snv 2.4E-04; 1.2E-05
Ceroid lipofuscinosis, neuronal 1, infantile
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2015 2015