DisGeNET - a database of gene-disease associations

List of associated variants

Primary Adrenal Insufficiency, C3887896

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
rs121918654	NR5A1	0.882	0.200	9	124503218	missense variant	GC/TT	mnv			6
rs6161	CYP11A1	0.851	0.080	15	74343027	missense variant	C/T	snv	2.5E-03	2.6E-03	5