DisGeNET - a database of gene-disease associations

Source: CURATED

Variants associated to the Disease: Hepatolenticular Degeneration ×

Variants associated to the Gene: ATP7B ×

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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
rs367956522	ATP7B	0.851	0.240	13	51949798	splice acceptor variant	T/C	snv	2.4E-05	7.7E-05	7
rs201497300	ATP7B	0.925	0.160	13	51946337	missense variant	C/T	snv	4.6E-05	2.8E-05	2
rs1021025464	ALG11 ; ATP7B	1.000	0.160	13	52012013	splice region variant	T/C	snv		9.1E-05	1
rs1484840087	ALG11 ; ATP7B	1.000	0.160	13	52011759	intron variant	GCGGTCTCGGCCACC/-	delins		7.0E-06	1
rs1038582488	ATP7B	1.000	0.160	13	51946405	missense variant	C/T	snv	4.0E-06		1
rs1045194246	ATP7B	1.000	0.160	13	51944303	non coding transcript exon variant	A/C;T	snv	4.1E-06; 4.1E-06		1
rs1052485948	ATP7B	1.000	0.160	13	51949764	missense variant	A/C;G;T	snv	4.0E-06; 8.0E-06		1
rs1057516227	ATP7B	1.000	0.160	13	51937354	frameshift variant	TG/-	del			1
rs1057516228	ATP7B	1.000	0.160	13	51937349	frameshift variant	C/-	delins			1
rs1057516305	ATP7B	1.000	0.160	13	51970663	stop gained	C/A	snv			1
rs1057516380	ATP7B	1.000	0.160	13	51958509	stop gained	G/T	snv			1
rs1057516418	ATP7B	1.000	0.160	13	51970522	frameshift variant	-/A	delins			1
rs1057516425	ATP7B	1.000	0.160	13	51950006	splice donor variant	C/T	snv			1
rs1057516479	ATP7B	1.000	0.160	13	51941108	stop gained	G/A	snv	4.0E-06		1
rs1057516516	ATP7B	1.000	0.160	13	51975117	stop gained	T/A;C	snv	4.0E-06		1
rs1057516561	ATP7B	1.000	0.160	13	51975045	frameshift variant	-/G	delins			1
rs1057516643	ATP7B	1.000	0.160	13	51949717	frameshift variant	A/-	del			1
rs1057516732	ATP7B	1.000	0.160	13	51957515	splice donor variant	C/-	delins			1
rs1057516740	ATP7B	1.000	0.160	13	51937579	frameshift variant	T/-	del			1
rs1057516844	ATP7B	1.000	0.160	13	51958363	missense variant	G/A	snv			1
rs1057516893	ATP7B	1.000	0.160	13	51965025	frameshift variant	C/-	delins			1
rs1057516940	ATP7B	1.000	0.160	13	51964920	frameshift variant	-/T	delins			1
rs1057517024	ATP7B	1.000	0.160	13	51965035	splice acceptor variant	T/C	snv			1
rs1057517141	ATP7B	1.000	0.160	13	51970697	frameshift variant	-/AA	delins			1
rs1057517191	ATP7B	1.000	0.160	13	51934912	frameshift variant	G/-	delins			1