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: rs1555582065
rs1555582065
0.827 0.160 17 44212851 missense variant C/T snv
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0