DisGeNET - a database of gene-disease associations

List of associated variants

C4 complement assay (procedure), C0577608

Source: ALL

Results per page

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
rs8283	ATF6B ; TNXB	0.882	0.120	6	32115523	3 prime UTR variant	A/G	snv		0.25	7
rs3753394	CFH	0.882	0.040	1	196651787	upstream gene variant	C/T	snv		0.22	5
rs1634718	MUC22	0.925	0.160	6	31005088	regulatory region variant	A/G	snv		0.20	3
rs3763317	BTNL2	1.000	0.040	6	32409011	upstream gene variant	C/T	snv		0.49	2
rs3745567	C3			19	6690760	intron variant	C/T	snv	0.11	0.11	2
rs2239805	HLA-DRA	1.000	0.120	6	32443599	intron variant	T/G	snv		0.13	2
rs2075799	HSPA1L	1.000	0.040	6	31810752	synonymous variant	C/T	snv	0.10	0.13	2
rs409558	MSH5 ; LOC105375020 ; MSH5-SAPCD1			6	31740370	5 prime UTR variant	T/C	snv		0.21	2
rs2071278	NOTCH4	1.000	0.120	6	32197667	intron variant	A/G	snv		0.13	2
rs2857009	TNXB	1.000	0.080	6	32051969	intron variant	G/C	snv		0.25	2
rs9276606				6	32768918	intergenic variant	A/C;T	snv			1
rs805273	ABHD16A			6	31697675	intron variant	G/A	snv		0.14	1
rs1052693	GTF2H4			6	30908375	5 prime UTR variant	C/T	snv		0.25	1
rs11575839	NCR3			6	31590014	synonymous variant	G/A	snv	4.8E-02	4.7E-02	1
rs241428	TAP2			6	32836293	intron variant	T/G	snv		4.5E-02	1