DisGeNET - a database of gene-disease associations

List of associated variants

Generalized Lipodystrophy, C4317112

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
rs57077886	LMNA	0.776	0.240	1	156114947	missense variant	C/T	snv			9
rs58932704	LMNA	0.776	0.200	1	156136413	missense variant	C/T	snv			8
rs267607619	LMNA	0.882	0.160	1	156130666	missense variant	G/C	snv			3
rs267607639	LMNA	0.882	0.200	1	156136939	missense variant	T/C	snv			3
rs121908093	ZMPSTE24	0.882	0.160	1	40285988	missense variant	T/C	snv			3