DisGeNET - a database of gene-disease associations

List of associated variants

Tyrosine measurement, C0337446

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
rs1744297	ASPG			14	104102135	intron variant	T/C	snv		0.86	12
rs2238732	PRODH			22	18927834	intron variant	C/G;T	snv			7
rs17450273				12	102967601	intergenic variant	C/A;T	snv			4
rs2194980	LOC102723639			12	115064913	intergenic variant	A/G;T	snv			2
rs146311338				3	52042162	upstream gene variant	C/T	snv		6.9E-02	1
rs74330485				19	41156018	intergenic variant	A/G	snv		4.3E-02	1
rs79776098				6	91459263	intergenic variant	A/G	snv		1.1E-03	1
rs143346730	CLVS1			8	61056966	upstream gene variant	A/G	snv		4.7E-03	1
rs74478345	LINC01592			8	68926541	intron variant	C/T	snv		2.1E-03	1
rs72930302	MYEOV			11	69309303	intron variant	A/G	snv		4.3E-02	1
rs62421904	SLC16A10			6	111087194	upstream gene variant	C/A	snv		0.40	1