DisGeNET - a database of gene-disease associations

List of associated variants

Microphthalmia and mental deficiency, C2931500

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
rs917411291	GZMM	0.851	0.360	19	544072	start lost	A/C;G	snv			9
rs917570055	GZMM	0.882	0.360	19	547342	start lost	A/G	snv			7
rs587777512	LRBA ; MAB21L2	0.827	0.320	4	150583180	missense variant	C/G;T	snv			7
rs587776954	RNU7-1 ; C12orf57	0.827	0.320	12	6944122	start lost	A/G	snv	3.2E-05	2.1E-05	6
rs587777511	MAB21L2 ; LRBA	0.882	0.320	4	150583181	missense variant	G/A	snv			3
rs782655345	C12orf57	0.925	0.320	12	6944529	start lost	A/C;G	snv	2.4E-05		2