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.
X-linked infantile spasms
CUI: C4552072
Disease: X-linked infantile spasms
122 0.882 0.040 20 63446769 missense variant G/A snv 0.700 1.000 3 2006 2016
SEIZURES, BENIGN FAMILIAL NEONATAL, 1
CUI: C3149074
Disease: SEIZURES, BENIGN FAMILIAL NEONATAL, 1
104 0.882 0.040 20 63446769 missense variant G/A snv 0.700 1.000 1 2006 2006
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7
CUI: C3150986
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7
91 0.882 0.040 20 63446769 missense variant G/A snv 0.700 0