DisGeNET - a database of gene-disease associations

Source: ALL

Variants associated to the Disease: Mandibuloacral dysostosis ×

Variants associated to the Gene: ZMPSTE24 ×

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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
rs121908094	ZMPSTE24	0.925	0.160	1	40258392	stop gained	C/T	snv	8.0E-06		3
rs121908095	ZMPSTE24	0.925	0.160	1	40272009	missense variant	C/G;T	snv	2.0E-05		3
rs281875371	ZMPSTE24	0.925	0.160	1	40281367	missense variant	A/G	snv	1.2E-05	2.8E-05	2