DisGeNET - a database of gene-disease associations

List of associated variants

Non-alcoholic Fatty Liver Disease, C0400966

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
rs1292932521	GGTLC3	1.000	0.040	22	18517476	missense variant	C/T	snv			1
rs3806622	HESX1 ; APPL1	1.000	0.040	3	57226802	intron variant	C/G	snv		0.47	1
rs12565406	HSD11B1 ; HSD11B1-AS1	1.000	0.040	1	209687741	intron variant	G/A;T	snv			1
rs2829145	LINC01684	1.000	0.040	21	24495924	intron variant	G/A	snv		0.11	1
rs4686434	LOC105374258 ; FETUB	1.000	0.040	3	186647354	intron variant	A/C;G	snv			1
rs11794552	LOC105376299 ; PLPP7	1.000	0.040	9	131344938	intron variant	C/T	snv		0.15	1
rs13428113	LOC107985940 ; INSIG2	1.000	0.040	2	118089309	intron variant	T/C	snv		0.51	1
rs738490	MOV10L1	1.000	0.040	22	50092222	intron variant	G/A	snv	0.18	0.14	1
rs1057613	MTTP	1.000	0.040	4	99583828	3 prime UTR variant	G/A	snv		0.60	1
rs1412189378	MTTP	1.000	0.040	4	99583404	missense variant	C/A	snv			1
rs1800804	MTTP	1.000	0.040	4	99574660	intron variant	T/C	snv		0.26	1
rs2306986	MTTP	1.000	0.040	4	99583418	missense variant	G/C;T	snv	5.9E-02		1
rs3805335	MTTP	1.000	0.040	4	99586478	intron variant	C/T	snv		1.3E-02	1
rs61733139	MTTP	1.000	0.040	4	99583409	missense variant	G/C	snv	4.0E-02	4.9E-02	1
rs756998920	MTTP	1.000	0.040	4	99581967	missense variant	G/A	snv	3.4E-04	8.4E-05	1
rs781469754	MTTP	1.000	0.040	4	99591691	missense variant	A/G	snv	4.0E-06	7.0E-06	1
rs5764455	PARVB ; SAMM50	1.000	0.040	22	44002644	intron variant	A/C;G	snv			1
rs6006611	PARVB ; SAMM50	1.000	0.040	22	44004818	intron variant	G/A	snv		0.44	1
rs139051	PNPLA3	1.000	0.040	22	43928796	intron variant	A/G	snv	0.56	0.59	1
rs143392071	PNPLA3	1.000	0.040	22	43933050	missense variant	A/G	snv	7.2E-04	2.1E-04	1
rs3810622	PNPLA3	1.000	0.040	22	43942254	intron variant	T/C;G	snv		0.40	1
rs6006460	PNPLA3	1.000	0.040	22	43946294	missense variant	G/T	snv	7.6E-03	3.1E-02	1
rs61756425	PPP1R3B	1.000	0.040	8	9141529	missense variant	G/T	snv	1.6E-02	1.0E-02	1
rs35929428	PTPRD	1.000	0.040	9	8485834	missense variant	G/A;C	snv	9.2E-02; 4.0E-06		1
rs2668423	PWWP3A	1.000	0.040	19	1370527	intron variant	T/G	snv		0.73	1