DisGeNET - a database of gene-disease associations

List of associated variants

Lipoma, C0023798

Source: ALL

Results per page

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
rs121913529	KRAS	0.492	0.680	12	25245350	missense variant	C/A;G;T	snv	4.0E-06		144
rs780533096	MIPEP	0.701	0.600	13	23886338	missense variant	C/G;T	snv	4.8E-06; 9.6E-06		44
rs121909218	PTEN	0.672	0.360	10	87933145	missense variant	G/A	snv			25
rs121909219	PTEN	0.689	0.400	10	87957915	stop gained	C/A;T	snv			25
rs1565930588	HSPB8	0.882	0.160	12	119193787	frameshift variant	TACTCAACATTTGG/-	del			19
rs1085308041	PTEN	0.763	0.160	10	87965285	splice acceptor variant	A/C;G	snv			12
rs1085308043	PTEN	0.763	0.200	10	87925511	splice acceptor variant	A/G;T	snv			12
rs1085308054	PTEN	0.827	0.160	10	87952231	frameshift variant	AT/-	delins			7
rs587782719	C11orf65 ; ATM	0.882	0.240	11	108335080	missense variant	G/A;C;T	snv	4.0E-06		4