DisGeNET - a database of gene-disease associations

List of associated variants

Lipodystrophy, C0023787

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
rs1799945	LOC108783645 ; HFE	0.452	0.760	6	26090951	missense variant	C/G;T	snv	0.11	0.10	226
rs1801282	PPARG	0.500	0.840	3	12351626	missense variant	C/G	snv	0.11	8.9E-02	131
rs1805192	PPARG	0.510	0.840	3	12379739	missense variant	C/G	snv			121
rs4986938	ESR2	0.641	0.600	14	64233098	3 prime UTR variant	C/T	snv	0.31	0.33	35
rs1800206	PPARA	0.641	0.640	22	46218377	missense variant	C/G	snv	4.3E-02	4.2E-02	35
rs11575937	LMNA	0.653	0.480	1	156136985	missense variant	G/A;T	snv			29
rs864309488	GMNN	0.776	0.440	6	24777296	missense variant	A/G	snv			14
rs57920071	LMNA	0.763	0.320	1	156136984	missense variant	C/T	snv	4.0E-06	7.0E-06	11
rs121909244	PPARG	0.776	0.160	3	12434111	missense variant	C/A;T	snv	4.0E-06		11
rs3020450	ESR2	0.807	0.200	14	64301584	splice region variant	C/A;T	snv			10
rs57077886	LMNA	0.776	0.240	1	156114947	missense variant	C/T	snv			9
rs57520892	LMNA	0.776	0.200	1	156137204	missense variant	G/A;C	snv	4.1E-05		8
rs745386663	GLB1	0.807	0.160	3	33051956	missense variant	G/A	snv	8.0E-06	2.1E-05	7
rs119103267	MFN2	0.790	0.160	1	12009641	missense variant	C/T	snv	2.5E-04	2.8E-04	7
rs587777606	HNRNPUL2-BSCL2 ; BSCL2 ; LRRN4CL	0.851	0.160	11	62691300	stop gained	G/A	snv	4.0E-06	7.0E-06	6
rs56657623	LMNA	0.827	0.120	1	156138540	missense variant	G/A	snv	1.6E-05	7.0E-06	5
rs267607591	LMNA	0.882	0.200	1	156135274	missense variant	G/A	snv			4
rs397517892	LMNA	0.851	0.240	1	156136419	missense variant	C/T	snv	9.9E-06	1.4E-05	4
rs57318642	LMNA	0.851	0.200	1	156137203	missense variant	C/T	snv	1.4E-05	1.4E-05	4
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
rs12964965	DLGAP1	0.925	0.080	18	3520557	intron variant	T/C	snv		0.33	2
rs2813544	ESR1	0.925	0.080	6	152104447	intron variant	A/G	snv		0.22	2
rs7154455	ESR2	0.925	0.080	14	64269942	intron variant	G/A;C	snv			2
rs121912493	LMNA	0.925	0.080	1	156136374	missense variant	G/A	snv		2.1E-05	2