rs1553923787, PPP3CA

N. diseases: 2
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 1.000 4 101083202 missense variant C/T snv 0.800 1.000 2 2017 2018
Multiple congenital anomalies
CUI: C0000772
Disease: Multiple congenital anomalies
350 1.000 4 101083202 missense variant C/T snv 0.700 1.000 13 1987 2017