DisGeNET - a database of gene-disease associations

List of associated variants

Acylcarnitines measurement, C0523446

Source: GWASCAT ×

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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
rs1171614	SLC16A9	0.882	0.200	10	59709780	5 prime UTR variant	T/C	snv		0.79	5
rs1171616	SLC16A9	0.882	0.200	10	59708831	intron variant	G/T	snv		0.79	4
rs12210538	SLC22A16	1.000	0.040	6	110438805	missense variant	A/G	snv	0.17	0.16	2
rs10494270				1	151934697	regulatory region variant	A/G	snv		0.29	1
rs10953730				7	113271355	intergenic variant	A/C;G	snv		0.25	1
rs6893782				5	132403741	intergenic variant	C/A	snv		0.72	1
rs2286963	ACADL			2	210195326	missense variant	T/G	snv	0.30	0.27	1
rs8396	ETFDH ; PPID			4	158709665	3 prime UTR variant	T/C	snv		0.29	1
rs270602	MIR3936HG ; SLC22A4			5	132321007	intron variant	T/A;C	snv			1
rs1171606	SLC16A9	0.925	0.120	10	59674761	intron variant	G/A;T	snv			1
rs270601	SLC22A4 ; MIR3936HG			5	132321304	intron variant	T/C	snv		0.71	1
rs7552404	SLC44A5			1	75670261	intron variant	A/G	snv		0.25	1