DisGeNET - a database of gene-disease associations

Source: BEFREE

Variants associated to the Disease: Breast Carcinoma ×

Variants associated to the Gene: BARD1 ×

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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
rs28997576	BARD1	0.776	0.160	2	214752454	missense variant	C/G;T	snv	1.5E-02		11
rs1048108	SNHG31 ; BARD1	0.827	0.120	2	214809500	missense variant	G/A	snv	0.38	0.33	5
rs113211432	BARD1	0.882	0.080	2	214767532	frameshift variant	-/TG	delins			3
rs2070094	BARD1	0.882	0.080	2	214767531	missense variant	C/A;T	snv	1.6E-05; 0.37		3
rs386654966	BARD1	0.882	0.080	2	214767531	missense variant	CA/AG;TG	mnv			3
rs587782555	BARD1	0.882	0.080	2	214728935	missense variant	A/G	snv		7.0E-06	3
rs2229571	BARD1	0.925	0.080	2	214780740	missense variant	C/G;T	snv	0.54		2
rs376256852	BARD1	0.925	0.080	2	214745739	missense variant	G/A;T	snv	8.0E-06; 1.6E-05		2