DisGeNET - a database of gene-disease associations

List of associated variants

High-Grade Squamous Intraepithelial Lesions, C0333875

Source: ALL

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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
rs587782329	TP53	0.677	0.280	17	7674217	missense variant	C/A;G;T	snv			23
rs730882025	TP53	0.724	0.360	17	7674885	missense variant	C/A;G;T	snv			21
rs396991	FCGR3A	0.742	0.480	1	161544752	missense variant	A/C;G;T	snv	0.33; 4.1E-06		14
rs863224683	TP53			17	7675224	missense variant	G/A;C	snv			4
rs144340710	TP53	1.000	0.120	17	7674259	missense variant	T/A;C	snv	4.0E-06; 1.8E-04		2
rs1000256867	TP53			17	7673550	missense variant	T/A;G	snv	4.0E-06		1
rs1305324490	TP53			17	7673738	missense variant	C/G	snv	4.0E-06		1
rs672601296	TP53			17	7673734	missense variant	G/A	snv			1