NBEA, neurobeachin, 26960

N. diseases: 5; N. variants: 9
Disease: Seizures ×
Source: CURATED ×
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: rs869312667
rs869312667 		1.000 0.160 13 35157262 missense variant C/T snv
CUI: C0036572
Disease: Seizures
Seizures 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 1 2018 2018
dbSNP: rs878853169
rs878853169 		1.000 0.160 13 35550528 stop gained C/T snv
CUI: C0036572
Disease: Seizures
Seizures 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 1 2018 2018