Source: INFERRED ×
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.
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
1.000 0.160 5 93585448 missense variant G/A;T snv 0.700 1.000 12 1999 2017
Optic atrophy, intellectual disability syndrome
CUI: C3810363
Disease: Optic atrophy, intellectual disability syndrome
1.000 0.160 5 93585448 missense variant G/A;T snv 0.700 0