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.
Dysmorphic facies
CUI: C0424503
Disease: Dysmorphic facies
106 11 64298178 missense variant G/A;C snv 7.0E-06 0.700 0
Generalized hypertrichosis
CUI: C3277940
Disease: Generalized hypertrichosis
4 11 64298178 missense variant G/A;C snv 7.0E-06 0.700 0
Gingival Overgrowth
CUI: C0376480
Disease: Gingival Overgrowth
5 11 64298178 missense variant G/A;C snv 7.0E-06 0.700 0
Poor school performance
CUI: C1843367
Disease: Poor school performance
411 11 64298178 missense variant G/A;C snv 7.0E-06 0.700 0
Seizures
CUI: C0036572
Disease: Seizures
553 11 64298178 missense variant G/A;C snv 7.0E-06 0.700 0