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: rs747824231
rs747824231
VARS1
0.882 0.040 6 31782361 missense variant C/G;T snv 4.1E-06
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.700 0
dbSNP: rs763777257
rs763777257
VARS1
0.882 0.040 6 31785269 stop gained G/A snv 4.0E-06
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.700 0