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.
Pena-Shokeir syndrome type I
CUI: C1276035
Disease: Pena-Shokeir syndrome type I
21 0.925 0.120 9 110785664 missense variant T/A;C snv 4.0E-06; 1.6E-05 0.800 0
Bilateral ptosis
CUI: C1865916
Disease: Bilateral ptosis
14 0.925 0.120 9 110785664 missense variant T/A;C snv 4.0E-06; 1.6E-05 0.700 0
Gross motor development delay
CUI: C1837658
Disease: Gross motor development delay
59 0.925 0.120 9 110785664 missense variant T/A;C snv 4.0E-06; 1.6E-05 0.700 0
Respiratory Insufficiency
CUI: C0035229
Disease: Respiratory Insufficiency
15 0.925 0.120 9 110785664 missense variant T/A;C snv 4.0E-06; 1.6E-05 0.700 0
Stridor
CUI: C0038450
Disease: Stridor
7 0.925 0.120 9 110785664 missense variant T/A;C snv 4.0E-06; 1.6E-05 0.700 0