DisGeNET - a database of gene-disease associations

Source: ALL

Variants associated to the Disease: Breast Carcinoma ×

Variants associated to the Gene: ATM ×

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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
rs1800056	ATM	0.882	0.120	11	108267276	missense variant	T/C	snv	8.7E-03	8.5E-03	6
rs587782652	ATM ; C11orf65	0.851	0.320	11	108335105	missense variant	T/C	snv	3.2E-05	4.2E-05	5
rs4986761	ATM	0.925	0.080	11	108254034	missense variant	T/C	snv	8.0E-03	7.7E-03	4
rs369642243	ATM	0.925	0.080	11	108253997	synonymous variant	T/C	snv	1.6E-05		2
rs28904921	C11orf65 ; ATM	0.763	0.320	11	108329202	missense variant	T/G	snv	4.0E-05	6.3E-05	12