VPS13B, vacuolar protein sorting 13 homolog B, 157680

N. diseases: 158; N. variants: 309
Disease: Muscle 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: rs120074152
rs120074152 		0.925 0.320 8 99384294 stop gained C/T snv 4.0E-06 7.0E-06
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 12 1998 2015
dbSNP: rs1554884733
rs1554884733 		1.000 8 99641974 frameshift variant -/GTCC delins
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 12 1998 2015
dbSNP: rs886041185
rs886041185 		0.925 0.320 8 99835295 frameshift variant -/A delins
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 12 1998 2015
dbSNP: rs386834070
rs386834070 		0.851 0.360 8 99134644 stop gained C/T snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0