CFI, complement factor I, 3426

N. diseases: 133; N. variants: 25
Disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3 ×
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: rs121964914
rs121964914 		1.000 4 109741074 missense variant T/A;C snv
CUI: C2752039
Disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3 		0.800 1.000 6 2004 2010
dbSNP: rs121964917
rs121964917 		1.000 4 109749594 missense variant G/A snv 8.8E-05 5.6E-05
CUI: C2752039
Disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3 		0.800 1.000 6 2004 2010
dbSNP: rs121964918
rs121964918 		1.000 4 109741090 missense variant C/T snv 8.0E-06 7.0E-06
CUI: C2752039
Disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3 		0.800 1.000 6 2004 2010
dbSNP: rs141853578
rs141853578 		0.807 0.040 4 109764664 missense variant C/T snv 4.2E-04 3.9E-04
CUI: C2752039
Disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3 		0.700 1.000 6 2004 2010
dbSNP: rs182078921
rs182078921 		1.000 4 109760294 missense variant C/A;T snv 4.8E-05
CUI: C2752039
Disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3 		0.700 1.000 4 2004 2010
dbSNP: rs61733901
rs61733901 		1.000 4 109746405 missense variant T/C;G snv 9.2E-04
CUI: C2752039
Disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3 		0.700 1.000 4 2004 2010
dbSNP: rs769419740
rs769419740 		1.000 4 109749524 missense variant A/G snv 7.2E-05 7.0E-05
CUI: C2752039
Disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3 		0.700 1.000 4 2004 2010
dbSNP: rs773187287
rs773187287 		1.000 4 109766691 missense variant G/A snv 2.5E-04 5.6E-05
CUI: C2752039
Disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3 		0.700 1.000 4 2004 2010
dbSNP: rs368615806
rs368615806 		1.000 4 109761616 stop gained G/A snv 8.0E-06 4.9E-05
CUI: C2752039
Disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3 		0.700 1.000 1 2012 2012
dbSNP: rs121964913
rs121964913 		1.000 4 109746231 stop gained G/A;T snv 3.2E-05
CUI: C2752039
Disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3 		0.700 0
dbSNP: rs121964915
rs121964915 		1.000 4 109741008 stop gained C/A;T snv
CUI: C2752039
Disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3 		0.700 0
dbSNP: rs200419722
rs200419722 		1.000 4 109766572 missense variant C/T snv 5.6E-05
CUI: C2752039
Disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3 		0.700 0
dbSNP: rs75612300
rs75612300 		1.000 4 109761627 missense variant T/C snv 4.7E-04 2.3E-03
CUI: C2752039
Disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3 		0.700 0