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: rs1553920383
rs1553920383
PPP3CA
0.925 4 101032350 frameshift variant TC/- delins
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs1553920383
rs1553920383
PPP3CA
0.925 4 101032350 frameshift variant TC/- delins
CUI: C4540199
Disease: EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 1
EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 1 		0.700 0
dbSNP: rs1553920383
rs1553920383
PPP3CA
0.925 4 101032350 frameshift variant TC/- delins
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0