DisGeNET - a database of gene-disease associations

List of associated variants

Steatohepatitis, C2711227

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
rs12137855	LYPLAL1	0.882	0.040	1	219275036	downstream gene variant	C/T	snv		0.19	3
rs1800795	IL6-AS1 ; IL6 ; STEAP1B	0.494	0.840	7	22727026	intron variant	C/G	snv		0.71	140
rs8192678	PPARGC1A	0.667	0.440	4	23814039	missense variant	C/T	snv	0.31	0.26	28
rs2290602	PPARGC1A	0.882	0.040	4	23824109	intron variant	T/A;G	snv			3
rs886041065	ASXL2	0.677	0.600	2	25743913	frameshift variant	G/-	delins			43
rs1799945	LOC108783645 ; HFE	0.452	0.760	6	26090951	missense variant	C/G;T	snv	0.11	0.10	226
rs1800562	LOC108783645 ; HFE	0.435	0.880	6	26092913	missense variant	G/A	snv	3.3E-02	3.8E-02	262
rs1260326	GCKR	0.645	0.600	2	27508073	missense variant	T/C;G	snv	0.63; 4.0E-06	0.68	81
rs780094	GCKR	0.658	0.400	2	27518370	intron variant	T/C	snv		0.67	62
rs3480	FNDC5	0.807	0.160	1	32862564	3 prime UTR variant	G/A	snv		0.56	8
rs779021719	HAMP	0.827	0.120	19	35284962	stop gained	C/G;T	snv	9.1E-05		5
rs12980275		0.701	0.360	19	39241143	upstream gene variant	A/G	snv		0.36	23
rs12979860	IFNL4	0.547	0.520	19	39248147	intron variant	C/T	snv		0.39	84
rs8099917		0.581	0.600	19	39252525	upstream gene variant	T/G	snv		0.16	60
rs738409	PNPLA3	0.557	0.720	22	43928847	missense variant	C/G	snv	0.28	0.22	88
rs2896019	PNPLA3	0.790	0.160	22	43937814	intron variant	T/G	snv		0.20	10
rs1010023	PNPLA3	0.851	0.080	22	43940218	intron variant	T/C	snv		0.20	4
rs2294918	PNPLA3	0.925	0.040	22	43946236	missense variant	A/G	snv	0.68	0.70	3
rs738491	SAMM50 ; PNPLA3	0.882	0.040	22	43958231	intron variant	C/T	snv		0.34	3
rs2143571	SAMM50	0.827	0.080	22	43995806	intron variant	G/A	snv		0.25	5
rs1800206	PPARA	0.641	0.640	22	46218377	missense variant	C/G	snv	4.3E-02	4.2E-02	35
rs1800234	PPARA	0.807	0.240	22	46219983	missense variant	T/A;C	snv	4.0E-06; 1.1E-02		6
rs2228570	VDR	0.521	0.760	12	47879112	start lost	A/C;G;T	snv	0.63		99
rs3213445	CHKB-CPT1B ; CPT1B	0.851	0.120	22	50577409	missense variant	T/C	snv	0.12	8.9E-02	4
rs74315468	ARSA	0.882	0.040	22	50626841	missense variant	G/A	snv	4.0E-06	2.8E-05	3