C3, complement C3, 718

N. diseases: 343; N. variants: 49
Disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 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: rs121909583
rs121909583 		0.925 0.120 19 6709754 missense variant C/T snv
CUI: C2752037
Disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5 		0.800 1.000 4 2008 2010
dbSNP: rs121909584
rs121909584 		1.000 19 6693033 missense variant G/A snv
CUI: C2752037
Disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5 		0.800 1.000 4 2008 2010
dbSNP: rs121909585
rs121909585 		0.925 0.120 19 6692971 missense variant C/T snv
CUI: C2752037
Disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5 		0.800 1.000 4 2008 2010
dbSNP: rs771353792
rs771353792 		1.000 19 6709755 missense variant G/A snv 4.0E-06
CUI: C2752037
Disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5 		0.700 1.000 2 2008 2010
dbSNP: rs794729228
rs794729228 		1.000 19 6714208 missense variant G/A snv
CUI: C2752037
Disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5 		0.700 1.000 1 2008 2008
dbSNP: rs117793540
rs117793540 		0.925 0.040 19 6707118 missense variant G/A snv 2.2E-03 1.9E-03
CUI: C2752037
Disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5 		0.700 0
dbSNP: rs121909586
rs121909586 		1.000 19 6697673 stop gained G/A;C snv
CUI: C2752037
Disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5 		0.700 0
dbSNP: rs775015499
rs775015499 		1.000 19 6685049 missense variant C/A;T snv 4.0E-06; 1.6E-05
CUI: C2752037
Disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5 		0.700 0