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.
MICROPHTHALMIA, SYNDROMIC 7
CUI: C0796070
Disease: MICROPHTHALMIA, SYNDROMIC 7
7 0.851 0.120 X 11118574 missense variant G/A snv 0.700 0
Bilateral microphthalmos
CUI: C1843496
Disease: Bilateral microphthalmos
11 0.851 0.120 X 11118574 missense variant G/A snv 0.010 1.000 1 2007 2007
Microphthalmos
CUI: C0026010
Disease: Microphthalmos
40 0.851 0.120 X 11118574 missense variant G/A snv 0.010 1.000 1 2007 2007
Sclerocornea
CUI: C1853235
Disease: Sclerocornea
3 0.851 0.120 X 11118574 missense variant G/A snv 0.010 1.000 1 2007 2007