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.
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
CUI: C0220663
Disease: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
92 0.827 0.240 3 138946383 missense variant T/C snv 0.700 0
BPES type I
CUI: C1862260
Disease: BPES type I
1 0.827 0.240 3 138946383 missense variant T/C snv 0.010 1.000 1 2011 2011
eyelids (symptom)
CUI: C2239120
Disease: eyelids (symptom)
1 0.827 0.240 3 138946383 missense variant T/C snv 0.010 1.000 1 2011 2011
Ovarian Failure, Premature
CUI: C0085215
Disease: Ovarian Failure, Premature
115 0.827 0.240 3 138946383 missense variant T/C snv 0.010 1.000 1 2011 2011
Premature Menopause
CUI: C0025322
Disease: Premature Menopause
90 0.827 0.240 3 138946383 missense variant T/C snv 0.010 1.000 1 2011 2011
skin fold (abnormality)
CUI: C1399793
Disease: skin fold (abnormality)
8 0.827 0.240 3 138946383 missense variant T/C snv 0.010 1.000 1 2011 2011