DisGeNET - a database of gene-disease associations

List of associated variants

Hereditary systemic amyloidosis, C4081731

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
rs1800973	LYZ	0.827	0.320	12	69350234	missense variant	C/A	snv	4.2E-02	4.3E-02	9
rs398122820	B2M	0.790	0.240	15	44715641	missense variant	G/A	snv			8
rs121913547	LYZ	0.807	0.200	12	69350192	missense variant	T/C	snv			7
rs121909612	FGA	0.807	0.160	4	154585795	missense variant	T/A	snv	4.0E-06	7.0E-06	6
rs730881163	TTR	0.882	0.160	18	31595155	missense variant	C/A	snv			3
rs387906535	LYZ	0.925	0.080	12	69350170	missense variant	G/C	snv		7.0E-06	2