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
rs1799883	FABP2	0.658	0.440	4	119320747	missense variant	T/A;C;G	snv	0.73		36
rs2294918	PNPLA3	0.925	0.040	22	43946236	missense variant	A/G	snv	0.68	0.70	3
rs1260326	GCKR	0.645	0.600	2	27508073	missense variant	T/C;G	snv	0.63; 4.0E-06	0.68	81
rs7946	PEMT	0.851	0.160	17	17506246	missense variant	C/T	snv	0.59	0.59	6
rs855791	TMPRSS6	0.701	0.400	22	37066896	missense variant	A/G;T	snv	0.57; 4.0E-06		38
rs139051	PNPLA3	1.000	0.040	22	43928796	intron variant	A/G	snv	0.56	0.59	1
rs1137101	LEPR	0.554	0.760	1	65592830	missense variant	A/G	snv	0.51	0.50	77
rs5182	AGTR1	0.742	0.160	3	148741608	synonymous variant	C/T	snv	0.49	0.41	16
rs4880	SOD2	0.500	0.840	6	159692840	missense variant	A/G	snv	0.48	0.47	131
rs6591182	EHBP1L1	0.925	0.080	11	65582285	missense variant	T/G	snv	0.47	0.45	2
rs1805096	LEPR	0.827	0.200	1	65636574	synonymous variant	G/A	snv	0.46	0.43	6
rs11868035	RAI1 ; SREBF1	0.763	0.200	17	17811787	splice region variant	G/A	snv	0.45	0.33	14
rs2228314	SREBF2	0.790	0.360	22	41880738	missense variant	G/C	snv	0.34	0.38	8
rs8192678	PPARGC1A	0.667	0.440	4	23814039	missense variant	C/T	snv	0.31	0.26	28
rs2241883	FABP1	0.763	0.360	2	88124547	missense variant	T/C	snv	0.30	0.29	14
rs2454206	TET2-AS1 ; TET2	0.851	0.160	4	105275794	missense variant	A/G;T	snv	0.30; 6.4E-06		6
rs1137100	LEPR	0.627	0.640	1	65570758	missense variant	A/G	snv	0.30	0.25	39
rs854560	PON1	0.513	0.800	7	95316772	missense variant	A/C;G;N;T	snv	0.29		113
rs738409	PNPLA3	0.557	0.720	22	43928847	missense variant	C/G	snv	0.28	0.22	88
rs1805074	DMGDH	1.000	0.040	5	79028529	missense variant	A/G	snv	0.27	0.33	1
rs3816873	MTTP	0.790	0.200	4	99583507	missense variant	T/C	snv	0.25	0.26	9
rs2072906	PNPLA3	0.851	0.160	22	43937292	intron variant	A/G	snv	0.25	0.20	4
rs4823173	PNPLA3	0.827	0.200	22	43932850	intron variant	G/A	snv	0.24	0.18	8
rs5186	AGTR1	0.630	0.560	3	148742201	3 prime UTR variant	A/C	snv	0.23	0.21	38
rs72613567	HSD17B13	0.742	0.320	4	87310240	splice donor variant	-/A	delins	0.22		14