DisGeNET - a database of gene-disease associations

List of associated variants

Familial porphyria cutanea tarda, C0268323

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
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
rs121918059	UROD	0.882	0.160	1	45014835	missense variant	C/G;T	snv	8.0E-06		3
rs145195562	UROD	0.925	0.160	1	45014071	splice donor variant	G/C	snv	2.8E-05; 4.0E-06		2
rs143823335	UROD	1.000	0.160	1	45014012	missense variant	G/A;C	snv	8.0E-06; 4.0E-06		1