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: rs1085308040
rs1085308040
0.851 0.200 10 87961096 missense variant G/A;T snv
CUI: C0036572
Disease: Seizures
Seizures
0.700 0
dbSNP: rs876660634
rs876660634
0.807 0.200 10 87925551 missense variant A/C;G snv
CUI: C0036572
Disease: Seizures
Seizures
0.700 0