VPS13B, vacuolar protein sorting 13 homolog B, 157680

N. diseases: 158; N. variants: 309
Disease: Generalized hypotonia ×
Source: ALL
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: rs777593389
rs777593389 		1.000 0.320 8 99156693 stop gained C/T snv 4.0E-06
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 1 2016 2016