DisGeNET - a database of gene-disease associations

Source: BEFREE

Variants associated to the Gene: POLE ×

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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
rs483352909	POLE	0.752	0.160	12	132673664	missense variant	G/A;C	snv	1.6E-05		8
rs1057519945	POLE	0.776	0.200	12	132673703	missense variant	C/A;T	snv			7
rs1057519943	POLE	0.790	0.160	12	132676598	missense variant	G/C;T	snv			5
rs146639652	POLE	0.827	0.080	12	132675752	missense variant	G/A;C	snv	1.2E-05		5
rs1323151304	POLE	0.925	0.080	12	132643933	frameshift variant	TA/-	delins			2
rs780865223	POLE	0.925	0.080	12	132672754	missense variant	T/C	snv	1.2E-05	1.2E-04	2
rs980578884	POLE	0.925	0.080	12	132673217	missense variant	C/T	snv		1.4E-05	2
rs5744857	POLE			12	132659414	synonymous variant	C/T	snv	0.50	0.54	1
rs1232888774	POLE	1.000	0.080	12	132676606	synonymous variant	G/C	snv		7.0E-06	1