THAP11, THAP domain containing 11, 57215

N. diseases: 23; N. variants: 3
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: rs188675529
rs188675529 		0.827 0.240 16 67842794 missense variant C/G;T snv 1.6E-03 6.0E-04
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0