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.
Bamforth syndrome
CUI: C1855794
Disease: Bamforth syndrome
3 0.925 0.200 9 97854128 missense variant C/A snv 4.0E-06 0.010 1.000 1 2014 2014
Thyroid Agenesis
CUI: C0749420
Disease: Thyroid Agenesis
3 0.925 0.200 9 97854128 missense variant C/A snv 4.0E-06 0.010 1.000 1 2014 2014