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
rs2862954	ERLIN1	0.925	0.040	10	100152307	missense variant	T/C	snv	0.34	0.32	2
rs12784396	CWF19L1	0.925	0.040	10	100267650	5 prime UTR variant	C/A;T	snv			4
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
rs940553638	ALDH2	0.827	0.200	12	111783222	missense variant	G/A	snv	1.6E-05	7.0E-06	6
rs671	ALDH2	0.529	0.840	12	111803962	missense variant	G/A	snv	1.9E-02	5.8E-03	116
rs2854116	APOC3	0.807	0.200	11	116829453	upstream gene variant	C/T	snv		0.51	7
rs2070666	APOC3	0.882	0.120	11	116830958	intron variant	T/A;C	snv			4
rs13266634	SLC30A8 ; LOC105375716	0.724	0.480	8	117172544	missense variant	C/A;T	snv	0.29		23
rs397507444	MTHFR	0.405	0.880	1	11794407	missense variant	T/G	snv			306
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs1801133	MTHFR	0.472	0.880	1	11796321	missense variant	G/A	snv	0.31	0.27	174
rs2645424	FDFT1	0.827	0.120	8	11826954	intron variant	A/C;G	snv		0.56	5
rs951599607	PPARG	0.925	0.040	3	12434028	missense variant	G/A	snv			4
rs748204991	ST14	1.000	0.040	11	130196396	missense variant	G/A	snv	2.1E-05	7.0E-06	1
rs1554888939	EHMT1	0.683	0.640	9	137798823	missense variant	G/T	snv			58
rs1057972	IL15	0.790	0.200	4	141733279	3 prime UTR variant	A/T	snv		0.54	7
rs10833	IL15	0.776	0.160	4	141733394	3 prime UTR variant	T/A;C	snv			10
rs1042714	ADRB2	0.597	0.640	5	148826910	stop gained	G/C;T	snv	0.68		54
rs13361189		0.752	0.240	5	150843825	upstream gene variant	T/C	snv		0.21	13
rs797044485	LMNA	0.851	0.160	1	156134832	missense variant	G/A	snv			4
rs1346324047	LPA	1.000	0.040	6	160640717	missense variant	G/A	snv			1
rs2241766	ADIPOQ ; ADIPOQ-AS1	0.608	0.720	3	186853103	synonymous variant	T/C;G	snv	8.0E-06; 0.13		48
rs2228603	NCAN	0.790	0.360	19	19219115	missense variant	C/A;T	snv	2.8E-05; 5.9E-02		12
rs58542926	TM6SF2	0.630	0.440	19	19268740	missense variant	C/T	snv	6.5E-02	5.8E-02	42