DisGeNET - a database of gene-disease associations

List of associated variants

ADRENOCORTICAL CARCINOMA, HEREDITARY, C1859972

Source: CLINVAR ×

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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
rs11540652	TP53	0.592	0.640	17	7674220	missense variant	C/A;G;T	snv	1.2E-05		42
rs28934576	TP53	0.554	0.600	17	7673802	missense variant	C/A;G;T	snv	4.0E-06; 1.6E-05		39
rs28934578	TP53	0.605	0.600	17	7675088	missense variant	C/A;T	snv	4.0E-06		16
rs55832599	TP53	0.716	0.360	17	7673821	missense variant	G/A	snv			13
rs1131691003	TP53	0.752	0.360	17	7676381	splice donor variant	C/A;G	snv			12
rs1131691042	TP53	0.752	0.360	17	7675052	splice donor variant	C/T	snv			12