DisGeNET - a database of gene-disease associations

List of associated variants

Familial Glucocorticoid Deficiency Type 1, C4049650

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
rs28940892	MC2R	0.882	0.200	18	13884758	missense variant	T/C	snv			3
rs104894658	MC2R	0.925	0.120	18	13885298	missense variant	C/A	snv	1.9E-04	3.2E-04	2
rs104894660	MC2R	0.925	0.120	18	13885110	missense variant	G/A;T	snv	6.0E-05; 2.0E-05		2
rs1555619430	MC2R	0.925	0.120	18	13885059	frameshift variant	-/G	delins			2
rs758709668	MC2R	0.925	0.200	18	13885082	missense variant	C/A;T	snv	4.0E-06; 3.2E-05		2
rs768093045	MC2R	0.925	0.200	18	13885212	missense variant	C/G;T	snv	1.6E-05		2
rs80358231	MRAP	0.925	0.120	21	32298974	start lost	G/A	snv	5.6E-05	8.4E-05	2
rs104894656	MC2R	1.000	0.120	18	13885159	missense variant	G/A;C	snv	4.0E-06; 8.0E-06		1
rs104894657	MC2R	1.000	0.120	18	13885137	missense variant	G/A	snv	8.0E-06	2.1E-05	1
rs104894659	MC2R	1.000	0.120	18	13884918	stop gained	G/A;T	snv	1.2E-05; 2.0E-05		1
rs104894661	MC2R	1.000	0.120	18	13885200	missense variant	C/T	snv	4.0E-06	7.0E-06	1
rs104894662	MC2R	1.000	0.120	18	13884767	missense variant	C/A;G;T	snv			1
rs1555619372	MC2R	1.000	0.120	18	13884817	frameshift variant	G/-	delins			1
rs1555619377	MC2R	1.000	0.120	18	13884845	missense variant	A/C	snv			1
rs199950178	MC2R	1.000	0.120	18	13885095	missense variant	C/A;T	snv	3.6E-05	1.4E-05	1
rs267607231	MC2R	1.000	0.120	18	13885143	missense variant	C/A;T	snv	4.0E-06		1
rs1476574441	MRAP	1.000	0.120	21	32299078	splice donor variant	G/-	del		1.4E-05	1
rs1555897462	MRAP	1.000	0.120	21	32298972	start lost	A/G	snv			1