CD46, CD46 molecule, 4179

N. diseases: 258; N. variants: 21
Disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2 ×
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: rs121909589
rs121909589 		1.000 1 207767057 missense variant T/C;G snv 4.0E-06; 4.0E-06
CUI: C2752040
Disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2 		0.800 1.000 6 2003 2010
dbSNP: rs121909591
rs121909591 		1.000 1 207757020 missense variant G/A snv 1.2E-05 1.4E-05
CUI: C2752040
Disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2 		0.800 1.000 6 2003 2010
dbSNP: rs1057516191
rs1057516191 		1.000 1 207761314 frameshift variant TT/- delins
CUI: C2752040
Disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2 		0.700 0
dbSNP: rs121909590
rs121909590 		1.000 1 207757091 stop gained C/T snv 1.2E-05 1.4E-05
CUI: C2752040
Disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2 		0.700 0
dbSNP: rs1271761432
rs1271761432 		1.000 1 207767031 missense variant C/G snv
CUI: C2752040
Disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2 		0.700 0
dbSNP: rs1553251787
rs1553251787 		1.000 1 207767024 stop gained C/T snv
CUI: C2752040
Disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2 		0.700 0
dbSNP: rs750324925
rs750324925 		1.000 1 207761377 missense variant C/T snv 4.0E-06
CUI: C2752040
Disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2 		0.700 0
dbSNP: rs759136081
rs759136081 		1.000 1 207761266 missense variant C/T snv 4.0E-06
CUI: C2752040
Disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2 		0.700 0
dbSNP: rs886039868
rs886039868 		1.000 1 207767113 frameshift variant G/- delins
CUI: C2752040
Disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2 		0.700 0