Disease: COWDEN SYNDROME 5 ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs587777794
rs587777794 		1.000 3 179204588 missense variant G/A snv 7.0E-06
CUI: C3554518
Disease: COWDEN SYNDROME 5
COWDEN SYNDROME 5 		0.800 1.000 1 2013 2013