DisGeNET - a database of gene-disease associations

List of associated variants

Lethargy, C0023380

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
rs1800562	LOC108783645 ; HFE	0.435	0.880	6	26092913	missense variant	G/A	snv	3.3E-02	3.8E-02	262
rs1276519904	H3-3A	0.645	0.520	1	226071445	missense variant	A/G	snv			63
rs867410737	ATP5F1D	0.708	0.440	19	1242559	missense variant	C/T	snv	6.7E-06		45
rs587782995	PURA	0.708	0.360	5	140114480	missense variant	T/C	snv			42
rs1562127631	IRAK1BP1 ; PHIP	0.742	0.360	6	78961751	frameshift variant	C/-	del			24
rs367814475	IVD	0.925	0.080	15	40415482	missense variant	G/C;T	snv	8.0E-06; 4.0E-06		9