DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variants associated to the Disease: Mammary Neoplasms ×

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
rs28904921	C11orf65 ; ATM	0.763	0.320	11	108329202	missense variant	T/G	snv	4.0E-05	6.3E-05	7
rs1555114766	C11orf65 ; ATM			11	108317486	stop gained	G/A	snv			1