NECAP1, NECAP endocytosis associated 1, 25977

N. diseases: 55; N. variants: 1
Disease: X-linked infantile spasms ×
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: rs587777420
rs587777420 		0.925 0.040 12 8089982 stop gained C/T snv 7.0E-06
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		Nervous System Diseases 0.710 1.000 1 2019 2019