DisGeNET - a database of gene-disease associations

Source: CURATED

Variants associated to the Disease: Menkes Kinky Hair Syndrome ×

Variants associated to the Gene: ATP7A ×

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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	Num. diseases
rs1569549587	PGK1 ; ATP7A	1.000	0.160	X	77988529	frameshift variant	CAATCAGA/-	del		1
rs797045397	ATP7A ; PGK1	0.882	0.240	X	77988541	frameshift variant	AG/-	delins		3
rs797045399	ATP7A ; PGK1	1.000	0.160	X	77988719	stop gained	C/T	snv	5.5E-06	1
rs151340633	PGK1 ; ATP7A	1.000	0.160	X	77988722	stop gained	C/T	snv	5.5E-06	1
rs797045400	ATP7A ; PGK1	1.000	0.160	X	77989498	frameshift variant	G/-	del		1
rs797045325	ATP7A ; PGK1	1.000	0.160	X	77989628	stop gained	G/T	snv		1
rs797045327	PGK1 ; ATP7A	1.000	0.160	X	77989640	frameshift variant	-/GGGGC	delins		1
rs72554636	PGK1 ; ATP7A	1.000	0.160	X	77989847	stop gained	C/T	snv		1
rs797045329	ATP7A ; PGK1	1.000	0.160	X	77998496	frameshift variant	T/-	del		1
rs797045330	PGK1 ; ATP7A	1.000	0.160	X	77998601	stop gained	C/A	snv		1
rs1569549699	ATP7A ; PGK1	0.882	0.240	X	77998678	stop gained	G/T	snv		3
rs797045331	ATP7A ; PGK1	1.000	0.160	X	78003072	splice acceptor variant	G/A	snv		1
rs797045332	ATP7A ; PGK1	0.882	0.240	X	78003168	stop gained	C/T	snv		3
rs797045333	PGK1 ; ATP7A	1.000	0.160	X	78003195	frameshift variant	TA/-	delins		1
rs1569549753	ATP7A ; PGK1	1.000	0.160	X	78003237	splice donor variant	G/A	snv		1
rs797045336	ATP7A ; PGK1	1.000	0.160	X	78009176	stop gained	C/G	snv		1
rs797045337	PGK1 ; ATP7A	1.000	0.160	X	78009225	stop gained	G/T	snv		1
rs797045338	ATP7A ; PGK1	1.000	0.160	X	78011175	splice acceptor variant	G/C	snv		1
rs797045339	ATP7A ; PGK1	1.000	0.160	X	78011180	stop gained	T/G	snv		1
rs72554639	PGK1 ; ATP7A	1.000	0.160	X	78011191	missense variant	G/C	snv		1
rs151340631	PGK1 ; ATP7A	0.925	0.240	X	78011216	stop gained	C/G;T	snv		2
rs72554640	PGK1 ; ATP7A	0.882	0.160	X	78011239	stop gained	C/T	snv		9
rs797045340	PGK1 ; ATP7A	1.000	0.160	X	78011253	splice donor variant	G/C	snv		1
rs797045341	ATP7A ; PGK1	1.000	0.160	X	78011257	splice region variant	G/A	snv		1
rs794729231	PGK1 ; ATP7A	1.000	0.160	X	78011448	splice acceptor variant	G/A;C	snv		1