DisGeNET - a database of gene-disease associations

Source: UNIPROT

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	AF GENOME	Num. diseases
rs72554642	ATP7A ; PGK1	1.000	0.160	X	78011619	missense variant	T/G	snv			1
rs72554644	ATP7A ; PGK1	1.000	0.160	X	78012885	stop gained	G/A;T	snv			1
rs72554646	ATP7A ; PGK1	1.000	0.160	X	78015873	missense variant	T/G	snv			1
rs72554654	ATP7A ; PGK1	1.000	0.160	X	78033663	missense variant	G/A	snv			1
rs72554657	ATP7A ; PGK1	1.000	0.160	X	78042687	missense variant	G/A	snv			1
rs151340631	PGK1 ; ATP7A	0.925	0.240	X	78011216	stop gained	C/G;T	snv			1
rs151340632	PGK1 ; ATP7A	0.925	0.240	X	78042694	missense variant	A/G	snv			1
rs367775730	PGK1 ; ATP7A	1.000	0.160	X	78015786	missense variant	G/A	snv	2.1E-04	8.5E-05	1
rs72554639	PGK1 ; ATP7A	1.000	0.160	X	78011191	missense variant	G/C	snv			1
rs72554651	PGK1 ; ATP7A	1.000	0.160	X	78029350	missense variant	T/C	snv			1
rs72554652	PGK1 ; ATP7A	1.000	0.160	X	78029389	missense variant	G/A	snv			1
rs72554655	PGK1 ; ATP7A	1.000	0.160	X	78040695	missense variant	G/A	snv			1
rs797045390	PGK1 ; ATP7A	1.000	0.160	X	78042726	missense variant	G/A	snv			1