rs869312664, SCN2A

N. diseases: 4
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.
Delayed speech and language development
CUI: C0454644
Disease: Delayed speech and language development
192 0.925 0.160 2 165386920 stop gained G/A;T snv 0.700 0
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
CUI: C3150987
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
65 0.925 0.160 2 165386920 stop gained G/A;T snv 0.700 0
Generalized hypotonia
CUI: C1858120
Disease: Generalized hypotonia
164 0.925 0.160 2 165386920 stop gained G/A;T snv 0.700 0
Moderate intellectual disability
CUI: C0026351
Disease: Moderate intellectual disability
94 0.925 0.160 2 165386920 stop gained G/A;T snv 0.700 0