DisGeNET - a database of gene-disease associations

List of associated variants

Adenoid Cystic Carcinoma, C0010606

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
rs121913283	PIK3CA	0.724	0.440	3	179234286	missense variant	G/A;T	snv	4.0E-06		16
rs121913284	PIK3CA	0.776	0.160	3	179203765	missense variant	T/A;G	snv			11
rs1057519937	PIK3CA	0.776	0.200	3	179234285	missense variant	T/C	snv			11
rs121913272	PIK3CA	0.752	0.400	3	179210192	missense variant	T/C;G	snv			13
rs1555913337	BCOR	1.000	0.040	X	40054273	frameshift variant	TAGAAGTCCCAAGTGC/-	del			1