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: rs587777790
rs587777790 		0.732 0.280 3 179199690 missense variant G/A snv
CUI: C3554518
Disease: COWDEN SYNDROME 5
COWDEN SYNDROME 5 		0.800 1.000 1 2013 2013
dbSNP: rs587777791
rs587777791 		1.000 3 179199740 missense variant G/A snv
CUI: C3554518
Disease: COWDEN SYNDROME 5
COWDEN SYNDROME 5 		0.800 1.000 1 2013 2013
dbSNP: rs587777792
rs587777792 		1.000 3 179201379 missense variant G/A snv
CUI: C3554518
Disease: COWDEN SYNDROME 5
COWDEN SYNDROME 5 		0.800 1.000 1 2013 2013
dbSNP: rs587777793
rs587777793 		1.000 3 179204509 missense variant G/A snv
CUI: C3554518
Disease: COWDEN SYNDROME 5
COWDEN SYNDROME 5 		0.800 1.000 1 2013 2013
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
dbSNP: rs121913274
rs121913274 		0.645 0.320 3 179218304 missense variant A/C;G;T snv
CUI: C3554518
Disease: COWDEN SYNDROME 5
COWDEN SYNDROME 5 		0.700 1.000 1 2013 2013
dbSNP: rs1057519942
rs1057519942 		0.724 0.320 3 179203760 missense variant G/A snv
CUI: C3554518
Disease: COWDEN SYNDROME 5
COWDEN SYNDROME 5 		0.700 0
dbSNP: rs121913281
rs121913281 		0.623 0.520 3 179234296 missense variant C/T snv
CUI: C3554518
Disease: COWDEN SYNDROME 5
COWDEN SYNDROME 5 		0.700 0
dbSNP: rs587777796
rs587777796 		1.000 3 179219719 stop gained T/G snv
CUI: C3554518
Disease: COWDEN SYNDROME 5
COWDEN SYNDROME 5 		0.700 0