rs878853280, FRRS1L

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.
Chorea
CUI: C0008489
Disease: Chorea
20 1.000 9 109137529 stop gained G/A snv 0.700 1.000 1 2016 2016
Progressive encephalopathy
CUI: C1838578
Disease: Progressive encephalopathy
5 1.000 9 109137529 stop gained G/A snv 0.700 1.000 1 2016 2016
Seizures
CUI: C0036572
Disease: Seizures
553 1.000 9 109137529 stop gained G/A snv 0.700 1.000 1 2016 2016
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 37
CUI: C4310770
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 37
9 1.000 9 109137529 stop gained G/A snv 0.700 0