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: rs1057518879
rs1057518879
0.776 0.280 1 11965571 stop gained G/A snv
CUI: C1845123
Disease: Generalized neonatal hypotonia
Generalized neonatal hypotonia
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0