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.
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 36
CUI: C3809039
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 36
2 0.925 0.080 19 1912477 missense variant G/A snv 7.0E-06 0.700 0
Poor school performance
CUI: C1843367
Disease: Poor school performance
411 0.925 0.080 19 1912477 missense variant G/A snv 7.0E-06 0.700 0
Strabismus
CUI: C0038379
Disease: Strabismus
89 0.925 0.080 19 1912477 missense variant G/A snv 7.0E-06 0.700 0
Intellectual Disability
CUI: C3714756
Disease: Intellectual Disability
159 0.925 0.080 19 1912477 missense variant G/A snv 7.0E-06 0.010 1.000 1 2019 2019