rs371950648, PDE4D

N. diseases: 2
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.
Acrodysostosis
CUI: C0220659
Disease: Acrodysostosis
6 0.925 0.280 5 58975740 missense variant G/A snv 1.1E-04 1.3E-04 0.010 1.000 1 2014 2014
Pseudohypoparathyroidism
CUI: C0033806
Disease: Pseudohypoparathyroidism
4 0.925 0.280 5 58975740 missense variant G/A snv 1.1E-04 1.3E-04 0.010 1.000 1 2014 2014