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: rs886041874
rs886041874
PHGDH
1.000 0.040 1 119721323 splice donor variant T/C snv 4.0E-06
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.700 0
dbSNP: rs886041874
rs886041874
PHGDH
1.000 0.040 1 119721323 splice donor variant T/C snv 4.0E-06
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0