DisGeNET - a database of gene-disease associations

List of associated variants

Atypical Hemolytic Uremic Syndrome, C2931788

Source: ALL

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Gene

Disease

Variant

Source

DSI _v

DPI _v

pLI

Consequence

AF_EXOME

AF_GENOME

Variant	Gene	DSI _v	DPI _v	Chr	Position	Consequence	Alleles	Class	AF EXOME	AF GENOME	Num. diseases
rs1061170	CFH	0.561	0.720	1	196690107	missense variant	C/T	snv	0.68	0.64	72
rs800292	CFH	0.645	0.560	1	196673103	missense variant	G/A	snv	0.32	0.40	33
rs1065489	CFH	0.695	0.440	1	196740644	missense variant	G/T	snv	0.20	0.15	19
rs121913059	CFH	0.716	0.280	1	196747245	missense variant	C/T	snv	1.4E-04	1.9E-04	16
rs138924661	DGKE ; TRIM25	0.807	0.120	17	56848773	stop gained	G/A	snv	9.1E-05	1.5E-04	9
rs121918027	PLG	0.827	0.320	6	160738593	missense variant	G/A	snv	1.4E-03	3.5E-04	7
rs121909585	C3	0.925	0.120	19	6692971	missense variant	C/T	snv			4
rs976333015	CFH	0.882	0.200	1	196673077	missense variant	G/A;T	snv			3
rs312262695	DGKE ; TRIM25	0.925	0.120	17	56847995	missense variant	G/A;C;T	snv	8.0E-06; 4.0E-06		3
rs41348347	THBD	0.882	0.120	20	23048049	missense variant	C/A	snv	8.4E-03	2.8E-03	3
rs121909583	C3	0.925	0.120	19	6709754	missense variant	C/T	snv			2
rs539992721	C3	0.925	0.160	19	6719285	missense variant	T/C;G	snv	4.0E-06; 4.8E-05		2
rs776423109	C3	1.000	0.120	19	6718117	missense variant	G/A;T	snv	4.0E-06; 4.0E-06		2
rs117905900	CFB ; CYP21A2	0.925	0.120	6	31948042	missense variant	C/G;T	snv	1.1E-02		2
rs121909748	CFB ; CYP21A2	0.925	0.120	6	31948443	missense variant	A/G	snv			2
rs121913063	CFH	0.925	0.120	1	196747209	stop gained	G/T	snv			2
rs149474608	CFH	0.925	0.120	1	196740686	missense variant	G/A;T	snv	8.0E-06; 3.9E-03		2
rs460184	CFH	0.925	0.120	1	196747207	missense variant	T/C	snv	4.0E-06	1.4E-05	2
rs460897	CFH	0.925	0.120	1	196747189	missense variant	C/T	snv			2
rs575109631	CFH	0.925	0.200	1	196745862	missense variant	A/G	snv	4.0E-06		2
rs148605410	DGKE ; C17orf67	1.000	0.120	17	56834827	stop gained	C/A;G	snv			2
rs312262696	DGKE ; TRIM25	0.925	0.120	17	56848695	splice acceptor variant	G/A	snv			2
rs312262699	DGKE ; TRIM25	1.000	0.120	17	56844039	frameshift variant	-/A	delins			2
rs782488785	ADAMTS13	1.000	0.120	9	133456105	missense variant	C/A;T	snv	4.0E-06	2.1E-05	1
rs904056711	ADAMTS13	1.000	0.120	9	133455399	missense variant	G/C	snv			1