DisGeNET - a database of gene-disease associations

List of associated variants

Aspartate aminotransferase measurement, C0201899

Source: GWASDB ×

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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
rs671	ALDH2	0.529	0.840	12	111803962	missense variant	G/A	snv	1.9E-02	5.8E-03	10
rs11066280	HECTD4	0.742	0.280	12	112379979	intron variant	T/A	snv		7.0E-03	8
rs2896019	PNPLA3	0.790	0.160	22	43937814	intron variant	T/G	snv		0.20	3
rs9389268	HBS1L	1.000	0.080	6	135098493	intron variant	A/G	snv		0.24	2
rs4949718	ST6GALNAC3			1	76433779	intron variant	T/A;C	snv			2
rs12231737	TRAFD1	0.925	0.120	12	112136812	intron variant	C/T	snv		5.9E-03	2
rs16840760				2	204118831	intergenic variant	T/C	snv		3.6E-02	1
rs10198552	ACMSD ; CCNT2-AS1			2	134842306	intron variant	T/C	snv		6.2E-02	1
rs7825271	C8orf34			8	68651460	intron variant	G/T	snv		0.84	1
rs892295	CHL1			3	355870	intron variant	A/G	snv		0.87	1
rs17109512	LOC105378449	1.000	0.040	10	98367794	regulatory region variant	G/A	snv		9.5E-02	1
rs2078087	NMNAT2			1	183389270	intron variant	C/T	snv		0.16	1
rs4823173	PNPLA3	0.827	0.200	22	43932850	intron variant	G/A	snv	0.24	0.18	1
rs738408	PNPLA3	0.925	0.120	22	43928850	synonymous variant	C/T	snv	0.28	0.22	1
rs13077101	RABL3			3	120706484	intron variant	T/C	snv			1
rs6855088	TENM3			4	181783398	intergenic variant	A/G	snv		0.18	1
rs4835265	ZNF827			4	145900258	intron variant	C/A	snv		0.15	1