KANSL1, KAT8 regulatory NSL complex subunit 1, 284058

N. diseases: 140; N. variants: 332
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: rs149830411
rs149830411 		0.827 0.360 17 46171276 stop gained G/A snv 5.2E-05 5.6E-05
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0