DisGeNET - a database of gene-disease associations

List of associated variants

Multiple Endocrine Neoplasia Type 1, C0025267

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
rs74799832	RET	0.662	0.280	10	43121968	missense variant	T/C	snv	4.0E-06		33
rs79658334	RET	0.662	0.360	10	43119548	missense variant	G/A;C;T	snv	1.2E-04; 4.3E-06		29
rs75076352	RET	0.689	0.240	10	43114500	missense variant	T/A;C;G	snv	1.2E-05		24
rs1042636	CASR	0.672	0.360	3	122284922	missense variant	A/G	snv	0.15	9.0E-02	23
rs77724903	RET	0.672	0.280	10	43118460	missense variant	A/G;T	snv	4.0E-06; 2.1E-03		23
rs2066827	GPR19 ; CDKN1B	0.695	0.320	12	12718165	missense variant	T/A;C;G	snv	1.6E-04; 1.6E-05; 0.26		21
rs75996173	RET	0.716	0.240	10	43114501	missense variant	G/A;C;T	snv	4.0E-06; 4.0E-06		21
rs76262710	RET	0.724	0.280	10	43113648	missense variant	T/A;C;G	snv	4.0E-06; 4.0E-06		17
rs79781594	RET	0.732	0.160	10	43113649	missense variant	G/A;C;T	snv			16
rs77939446	RET	0.724	0.120	10	43113622	missense variant	G/A;C;T	snv	4.0E-06		15
rs75234356	RET	0.716	0.240	10	43120144	missense variant	T/G	snv	1.2E-05	7.0E-06	14
rs77709286	RET	0.752	0.160	10	43114502	missense variant	C/G	snv	4.0E-06		12
rs78014899	RET	0.742	0.160	10	43118392	missense variant	G/A;C;T	snv	8.0E-06		12
rs377767404	RET	0.742	0.160	10	43114488	missense variant	T/C	snv			11
rs77503355	RET	0.776	0.160	10	43113655	missense variant	G/A;C;T	snv			8
rs377767429	RET	0.790	0.120	10	43120120	missense variant	GC/TT	mnv			7
rs794728615	MEN1	0.882	0.160	11	64810025	stop gained	G/A;C	snv	4.2E-06		5
rs794728648	MEN1	0.925	0.120	11	64808078	missense variant	C/A;T	snv			4
rs145047094	AIP	0.882	0.160	11	67483205	missense variant	G/A	snv	2.0E-03	1.9E-03	3
rs1114167469	MEN1	0.925	0.160	11	64806322	missense variant	G/A	snv			3
rs1114167494	MEN1	1.000	0.120	11	64808031	missense variant	C/A	snv			3
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
rs1114167524	MAP4K2 ; MEN1	1.000	0.120	11	64805159	frameshift variant	-/GGAC	ins			2