DisGeNET - a database of gene-disease associations

List of associated variants

Hyperferritinaemia, C3854388

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
rs104893664	SLC40A1	0.925	0.080	2	189564186	missense variant	C/T	snv	4.4E-05		2
rs104893673	SLC40A1	0.925	0.080	2	189575193	missense variant	C/A	snv			2