DisGeNET - a database of gene-disease associations

List of shared variants

Neoplastic Syndromes, Hereditary, C0027672

Disease: Multiple Endocrine Neoplasia Type 1

Source: CLINVAR ×

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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
rs79658334	RET	0.662	0.360	10	43119548	missense variant	G/A;C;T	snv	1.2E-04; 4.3E-06		14
rs76262710	RET	0.724	0.280	10	43113648	missense variant	T/A;C;G	snv	4.0E-06; 4.0E-06		11
rs75996173	RET	0.716	0.240	10	43114501	missense variant	G/A;C;T	snv	4.0E-06; 4.0E-06		10
rs75076352	RET	0.689	0.240	10	43114500	missense variant	T/A;C;G	snv	1.2E-05		9
rs77939446	RET	0.724	0.120	10	43113622	missense variant	G/A;C;T	snv	4.0E-06		9
rs79781594	RET	0.732	0.160	10	43113649	missense variant	G/A;C;T	snv			8
rs587776841	MEN1	0.925	0.120	11	64809858	frameshift variant	ACAG/-	delins			3
rs104894259	MAP4K2 ; MEN1	1.000	0.120	11	64805078	missense variant	A/G;T	snv			2
rs104894261	MAP4K2 ; MEN1	1.000	0.120	11	64804588	stop gained	G/A	snv			2
rs104894263	MEN1	1.000	0.120	11	64809695	missense variant	G/C	snv			2
rs104894264	MEN1 ; MAP4K2	1.000	0.120	11	64805132	missense variant	C/A;G;T	snv			2
rs104894266	MEN1	1.000	0.120	11	64807557	stop gained	G/A	snv			2
rs104894267	MEN1 ; MAP4K2	1.000	0.120	11	64804789	stop gained	G/A;T	snv		7.0E-06	2
rs1060499974	MEN1 ; MAP4K2	1.000	0.120	11	64805141	stop gained	G/A	snv		7.0E-06	2
rs1060499976	MEN1	1.000	0.120	11	64807178	splice donor variant	C/A;G;T	snv			2
rs1060503789	MEN1	1.000	0.120	11	64807095	stop gained	G/A;T	snv	4.0E-06		2
rs1114167482	MEN1	1.000	0.120	11	64806259	stop gained	C/T	snv			2
rs1114167486	MEN1	1.000	0.120	11	64809873	frameshift variant	G/-	delins			2
rs1114167489	MEN1	1.000	0.120	11	64806231	splice donor variant	C/G;T	snv			2
rs1114167498	MEN1	1.000	0.120	11	64806370	splice acceptor variant	T/C	snv			2
rs1114167524	MAP4K2 ; MEN1	1.000	0.120	11	64805159	frameshift variant	-/GGAC	ins			2
rs1114167528	MEN1 ; MAP4K2	1.000	0.120	11	64805103	missense variant	A/T	snv			2
rs1114167531	MEN1 ; MAP4K2	1.000	0.120	11	64804777	frameshift variant	-/CTCTCGGC	delins			2
rs1114167536	MEN1 ; MAP4K2	1.000	0.120	11	64804753	frameshift variant	-/ACGGCTCC	delins			2
rs376872829	MEN1	1.000	0.120	11	64808019	missense variant	C/A;G;T	snv	2.0E-05; 4.0E-06		2