DisGeNET - a database of gene-disease associations

List of associated variants

Hepatitis C, C0019196

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
rs80338880	TFR2	0.732	0.360	7	100633100	stop gained	G/C	snv		7.0E-06	12
rs200249435	TFR2	0.827	0.200	7	100641071	missense variant	G/A;C	snv	4.2E-06; 8.3E-06		5
rs1617640	EPO	0.742	0.520	7	100719675	upstream gene variant	C/A;G;T	snv			15
rs3844283	IRAK2	0.882	0.200	3	10222796	missense variant	C/G	snv	0.37	0.35	3
rs1222174664	SLCO6A1	0.827	0.280	5	102477801	missense variant	G/A	snv	8.0E-06	7.0E-06	5
rs28362491	LOC105377621 ; NFKB1	0.592	0.720	4	102500998	non coding transcript exon variant	ATTG/-	delins			56
rs27647	GHRLOS ; GHRL	0.925	0.120	3	10290784	5 prime UTR variant	C/T	snv		0.67	2
rs17401966	KIF1B	0.790	0.280	1	10325413	intron variant	A/G	snv		0.24	7
rs2629751	GLT8D2	0.925	0.120	12	104028030	intron variant	A/G	snv		0.36	2
rs878859113	CD24	0.763	0.360	6	106971734	missense variant	G/A	snv		0.35	11
rs1297986	LINC00636	1.000	0.080	3	107912675	intron variant	A/G	snv			2
rs76810409		1.000	0.080	7	109456395	TF binding site variant	C/T	snv		2.5E-02	1
rs4444903	EGF	0.630	0.360	4	109912954	5 prime UTR variant	A/G	snv		0.51	35
rs12711521	MASP2 ; TARDBP	0.807	0.240	1	11030859	missense variant	C/A	snv	0.74	0.63	7
rs72550870	MASP2	0.776	0.360	1	11046609	missense variant	T/C	snv	2.1E-02	2.2E-02	8
rs5930	MIR6886 ; LDLR	0.827	0.200	19	11113589	synonymous variant	A/G	snv	0.63	0.66	8
rs72658864	LDLR	0.925	0.160	19	11116886	missense variant	T/C	snv	2.4E-05		4
rs688	LDLR	0.742	0.400	19	11116926	synonymous variant	C/T	snv	0.39	0.34	16
rs5925	LDLR	0.851	0.200	19	11120205	synonymous variant	T/C	snv	0.42	0.37	7
rs2569540	LDLR	1.000	0.080	19	11127563	non coding transcript exon variant	C/G	snv		0.68	1
rs14158	LDLR	0.851	0.160	19	11131368	synonymous variant	G/A	snv	0.24	0.22	5
rs1433099	SPC24 ; LDLR	0.882	0.160	19	11131982	3 prime UTR variant	T/A;C	snv			3
rs6726639	MERTK	1.000	0.080	2	111995520	intron variant	A/C	snv		0.62	1
rs4374383	MERTK	0.776	0.200	2	112013193	intron variant	A/G	snv		0.58	10
rs187238	IL18	0.602	0.680	11	112164265	intron variant	C/A;G	snv			48