DisGeNET - a database of gene-disease associations

List of shared variants

Aarskog syndrome, C0175701

Disease: Familial Glucocorticoid Deficiency Type 1

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
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