rs1553798675, FGF12

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
192 0.925 0.080 3 192335441 missense variant C/T snv 0.700 1.000 1 2016 2016
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 47
2 0.925 0.080 3 192335441 missense variant C/T snv 0.700 1.000 1 2016 2016
Seizures
CUI: C0036572
Disease: Seizures
553 0.925 0.080 3 192335441 missense variant C/T snv 0.700 1.000 1 2016 2016
Tonic - clonic seizures
CUI: C0494475
Disease: Tonic - clonic seizures
32 0.925 0.080 3 192335441 missense variant C/T snv 0.700 1.000 1 2016 2016