DisGeNET - a database of gene-disease associations

Source: ALL

Variants associated to the Disease: Liver carcinoma ×

Variants associated to the Gene: MASP2 ×

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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
rs72550870	MASP2	0.776	0.360	1	11046609	missense variant	T/C	snv	2.1E-02	2.2E-02	8
rs12711521	MASP2 ; TARDBP	0.807	0.240	1	11030859	missense variant	C/A	snv	0.74	0.63	7