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.
PREMATURE OVARIAN FAILURE 3 (disorder)
CUI: C1837008
Disease: PREMATURE OVARIAN FAILURE 3 (disorder)
4 0.851 0.240 3 138946163 missense variant C/T snv 4.5E-05 7.0E-06 0.800 1.000 2 2002 2009
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
CUI: C0220663
Disease: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
92 0.851 0.240 3 138946163 missense variant C/T snv 4.5E-05 7.0E-06 0.700 0
Ovarian Failure, Premature
CUI: C0085215
Disease: Ovarian Failure, Premature
115 0.851 0.240 3 138946163 missense variant C/T snv 4.5E-05 7.0E-06 0.010 1.000 1 2009 2009
Premature Menopause
CUI: C0025322
Disease: Premature Menopause
90 0.851 0.240 3 138946163 missense variant C/T snv 4.5E-05 7.0E-06 0.010 1.000 1 2009 2009