Source: CURATED

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: rs764618040
rs764618040
PHGDH ; LOC105378936
1.000 0.040 1 119726868 missense variant C/T snv 1.6E-05 2.1E-05
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs764618040
rs764618040
PHGDH ; LOC105378936
1.000 0.040 1 119726868 missense variant C/T snv 1.6E-05 2.1E-05
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.700 0