rs1553920383, PPP3CA

N. diseases: 3
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 1
CUI: C4540199
Disease: EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 1
8 0.925 4 101032350 frameshift variant TC/- delins 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.925 4 101032350 frameshift variant TC/- delins 0.700 0
Seizures
CUI: C0036572
Disease: Seizures
553 0.925 4 101032350 frameshift variant TC/- delins 0.700 0