DisGeNET - a database of gene-disease associations

List of associated variants

Familial Partial Lipodystrophy, Type 3, C1720861

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
rs121909244	PPARG	0.776	0.160	3	12434111	missense variant	C/A;T	snv	4.0E-06		11
rs72551362	PPARG	0.925	0.080	3	12416836	missense variant	G/A	snv	4.0E-06		4
rs72551364	PPARG	0.851	0.160	3	12433900	missense variant	C/T	snv			4
rs72551363	PPARG	0.882	0.080	3	12417048	missense variant	T/A	snv			3
rs121909245	PPARG	0.925	0.080	3	12392701	missense variant	T/A	snv			2
rs1057516190	LRRN4CL ; HNRNPUL2-BSCL2 ; BSCL2	1.000	0.080	11	62690439	synonymous variant	G/T	snv			1
rs121909246	PPARG	1.000	0.080	3	12392713	missense variant	C/T	snv	4.0E-06		1
rs1378972597	PPARG	1.000	0.080	3	12416855	missense variant	T/C	snv	4.0E-06		1
rs148195788	PPARG	1.000	0.080	3	12392714	missense variant	G/A	snv			1
rs1553643326	PPARG	1.000	0.080	3	12381481	missense variant	A/G	snv			1
rs1553647989	PPARG	1.000	0.080	3	12405897	missense variant	G/A	snv			1
rs1553650477	PPARG	1.000	0.080	3	12416893	frameshift variant	CTTGA/-	delins			1
rs1553653993	PPARG	1.000	0.080	3	12433979	missense variant	T/C	snv			1
rs770557781	PPARG	1.000	0.080	3	12433986	frameshift variant	C/-	delins	8.0E-06		1