DisGeNET - a database of gene-disease associations

List of associated variants

Endometrial Hyperplasia, C0014173

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
rs4680	COMT ; MIR4761	0.442	0.920	22	19963748	missense variant	G/A	snv	0.46	0.44	249
rs1799945	LOC108783645 ; HFE	0.452	0.760	6	26090951	missense variant	C/G;T	snv	0.11	0.10	226
rs429358	APOE	0.590	0.600	19	44908684	missense variant	T/C	snv	0.14	0.16	66
rs11542041	APOE	0.677	0.480	19	44908690	missense variant	C/A;T	snv		2.1E-05	23
rs1156920296	LOC108783645 ; HFE	0.925	0.080	6	26092918	missense variant	G/A	snv			2