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
rs9939609	FTO	0.559	0.720	16	53786615	intron variant	T/A	snv		0.41	98
rs4588	GC	0.597	0.720	4	71752606	missense variant	G/A;T	snv	1.6E-05; 0.25		53
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
rs779021719	HAMP	0.827	0.120	19	35284962	stop gained	C/G;T	snv	9.1E-05		5
rs72613567	HSD17B13	0.742	0.320	4	87310240	splice donor variant	-/A	delins	0.22		14
rs12979860	IFNL4	0.547	0.520	19	39248147	intron variant	C/T	snv		0.39	84
rs10833	IL15	0.776	0.160	4	141733394	3 prime UTR variant	T/A;C	snv			10
rs1057972	IL15	0.790	0.200	4	141733279	3 prime UTR variant	A/T	snv		0.54	7
rs1800795	IL6-AS1 ; IL6 ; STEAP1B	0.494	0.840	7	22727026	intron variant	C/G	snv		0.71	140
rs879254597	LDLR	0.851	0.120	19	11105528	stop gained	G/A;T	snv			4
rs11669576	LDLR ; MIR6886	0.851	0.160	19	11111624	missense variant	G/A	snv	4.3E-02	8.4E-02	6
rs1137100	LEPR	0.627	0.640	1	65570758	missense variant	A/G	snv	0.30	0.25	39
rs797044485	LMNA	0.851	0.160	1	156134832	missense variant	G/A	snv			4
rs1800562	LOC108783645 ; HFE	0.435	0.880	6	26092913	missense variant	G/A	snv	3.3E-02	3.8E-02	262
rs1799945	LOC108783645 ; HFE	0.452	0.760	6	26090951	missense variant	C/G;T	snv	0.11	0.10	226
rs641738	LOC112268246 ; TMC4 ; MBOAT7	0.689	0.320	19	54173068	missense variant	T/A;C;G	snv			22
rs4240624	LOC157273	0.882	0.040	8	9326721	intron variant	G/A	snv		0.87	5
rs1346324047	LPA	1.000	0.040	6	160640717	missense variant	G/A	snv			1
rs12137855	LYPLAL1	0.882	0.040	1	219275036	downstream gene variant	C/T	snv		0.19	3
rs1420472625	MBOAT7	0.925	0.040	19	54178800	missense variant	G/C	snv			2
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs397507444	MTHFR	0.405	0.880	1	11794407	missense variant	T/G	snv			306
rs1801133	MTHFR	0.472	0.880	1	11796321	missense variant	G/A	snv	0.31	0.27	174
rs12785878	NADSYN1	0.677	0.520	11	71456403	intron variant	G/A;T	snv			25