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: rs869320624
rs869320624
EMC1 ; EMC1-AS1
0.776 0.400 1 19220814 frameshift variant AAGG/- delins 1.4E-05
CUI: C0036572
Disease: Seizures
Seizures 		0.700 1.000 2 2016 2017