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, EARLY INFANTILE, 7
CUI: C3150986
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7
91 0.882 0.040 20 63413535 missense variant G/A;T snv 8.0E-06 0.700 1.000 4 2003 2015
X-linked infantile spasms
CUI: C4552072
Disease: X-linked infantile spasms
122 0.882 0.040 20 63413535 missense variant G/A;T snv 8.0E-06 0.700 1.000 3 2012 2015
Absent speech
CUI: C1854882
Disease: Absent speech
72 0.882 0.040 20 63413535 missense variant G/A;T snv 8.0E-06 0.700 0
Dystonia, Limb
CUI: C0751093
Disease: Dystonia, Limb
9 0.882 0.040 20 63413535 missense variant G/A;T snv 8.0E-06 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.882 0.040 20 63413535 missense variant G/A;T snv 8.0E-06 0.700 0