Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs869312667
rs869312667
NBEA
1.000 0.160 13 35157262 missense variant C/T snv
CUI: C0036572
Disease: Seizures
Seizures 		0.700 1.000 1 2018 2018
dbSNP: rs878853169
rs878853169
NBEA
1.000 0.160 13 35550528 stop gained C/T snv
CUI: C0036572
Disease: Seizures
Seizures 		0.700 1.000 1 2018 2018