DGKE, diacylglycerol kinase epsilon, 8526

N. diseases: 41; N. variants: 18
Disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 7 ×
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: rs138924661
rs138924661 		0.807 0.120 17 56848773 stop gained G/A snv 9.1E-05 1.5E-04
CUI: C3808620
Disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 7
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 7 		0.700 0
dbSNP: rs148605410
rs148605410 		1.000 0.120 17 56834827 stop gained C/A;G snv
CUI: C3808620
Disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 7
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 7 		0.700 0
dbSNP: rs312262694
rs312262694 		1.000 17 56834983 missense variant G/C snv
CUI: C3808620
Disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 7
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 7 		0.700 0
dbSNP: rs312262695
rs312262695 		0.925 0.120 17 56847995 missense variant G/A;C;T snv 8.0E-06; 4.0E-06
CUI: C3808620
Disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 7
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 7 		0.700 0
dbSNP: rs312262699
rs312262699 		1.000 0.120 17 56844039 frameshift variant -/A delins
CUI: C3808620
Disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 7
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 7 		0.700 0