DisGeNET - a database of gene-disease associations

List of associated variants

Disorders of Porphyrin Metabolism, C0032708

Source: ALL

Results per page

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
rs1799945	LOC108783645 ; HFE	0.452	0.760	6	26090951	missense variant	C/G;T	snv	0.11	0.10	226
rs121918057	UROD	0.882	0.160	1	45014803	missense variant	G/A;T	snv	1.2E-05; 8.0E-06		4
rs121918324	PPOX	0.925	0.160	1	161167187	missense variant	C/T	snv			3
rs369855221	HMBS	1.000	0.160	11	119092797	missense variant	A/G	snv		5.6E-05	2
rs761004837	HMBS	1.000	0.160	11	119089097	missense variant	C/T	snv	1.1E-04	4.9E-05	2
rs121908015	UROS	1.000	0.120	10	125816490	missense variant	G/A	snv	2.4E-05	2.8E-05	2