DisGeNET - a database of gene-disease associations

Source: BEFREE

Variants associated to the Disease: Multiple Endocrine Neoplasia Type 1 ×

Variants associated to the Gene: MEN1 ×

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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
rs794728615	MEN1	0.882	0.160	11	64810025	stop gained	G/A;C	snv	4.2E-06		4
rs149383809	MEN1	0.925	0.120	11	64805722	missense variant	T/A	snv	7.2E-05	3.5E-05	2
rs760629445	MEN1	0.925	0.120	11	64810048	missense variant	C/A;T	snv	4.2E-06; 8.4E-06		2
rs794728648	MEN1	0.925	0.120	11	64808078	missense variant	C/A;T	snv			2
rs1060499991	MAP4K2 ; MEN1	1.000	0.120	11	64804755	stop gained	C/T	snv			1
rs104894263	MEN1	1.000	0.120	11	64809695	missense variant	G/C	snv			1
rs1114167469	MEN1	0.925	0.160	11	64806322	missense variant	G/A	snv			1
rs1114167494	MEN1	1.000	0.120	11	64808031	missense variant	C/A	snv			1
rs369348210	MEN1	1.000	0.120	11	64810092	synonymous variant	G/A;C	snv	7.3E-05		1
rs386134250	MEN1	1.000	0.120	11	64810109	start lost	T/A;C;G	snv			1
rs1060499981	MEN1 ; MAP4K2	1.000	0.120	11	64805056	missense variant	G/T	snv			1