KLHL7, kelch like family member 7, 55975

N. diseases: 135; N. variants: 14
Disease: Limb hypertonia ×
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: rs77078070
rs77078070 		0.742 0.280 7 23165737 stop gained C/T snv 1.2E-05 1.4E-05
CUI: C1838391
Disease: Limb hypertonia
Limb hypertonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0