DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variants associated to the Gene: ATP1A3 ×

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	Num. diseases
rs606231435	ATP1A3	0.827	0.240	19	41970539	missense variant	C/T	snv	17
rs267606670	ATP1A3	0.790	0.320	19	41968837	missense variant	C/A;T	snv	17
rs80356537	ATP1A3	0.752	0.320	19	41970405	missense variant	C/A;G;T	snv	7
rs387907281	ATP1A3	0.752	0.280	19	41970284	missense variant	C/T	snv	6
rs542652468	ATP1A3	0.882		19	41986177	missense variant	G/A;T	snv	6
rs879255368	ATP1A3			19	41984953	missense variant	C/G;T	snv	5
rs398122887	ATP1A3	0.790	0.280	19	41967744	missense variant	C/G;T	snv	5
rs1064797245	ATP1A3	0.776	0.280	19	41970540	missense variant	G/A	snv	4
rs1057516032	ATP1A3	1.000		19	41970211	protein altering variant	AGTCT/GA	delins	4
rs1555859593	ATP1A3	1.000		19	41970483	missense variant	G/T	snv	3
rs587777771	ATP1A3	0.851	0.240	19	41970275	missense variant	C/T	snv	3
rs80356534	ATP1A3	0.925	0.040	19	41978041	missense variant	G/A	snv	2
rs606231442	ATP1A3	0.925	0.040	19	41969523	missense variant	C/T	snv	2
rs387907282	ATP1A3	0.925	0.040	19	41970296	missense variant	A/G	snv	2
rs80356532	ATP1A3	0.925	0.040	19	41985090	missense variant	A/G;T	snv	2
rs557052809	ATP1A3	0.827	0.160	19	41975629	missense variant	C/A;T	snv	2
rs549006436	ATP1A3	0.925	0.040	19	41970389	missense variant	A/C;T	snv	2
rs200891944	ATP1A3			19	41981976	missense variant	C/A;T	snv	1
rs797044897	ATP1A3			19	41984940	missense variant	T/C	snv	1
rs1555859157	ATP1A3	1.000		19	41968833	missense variant	A/G	snv	1
rs1135401821	ATP1A3	1.000	0.240	19	41986127	missense variant	T/C	snv	1
rs1135401822	ATP1A3	1.000	0.240	19	41975668	missense variant	C/A	snv	1
rs863224847	ATP1A3	1.000	0.240	19	41984937	missense variant	C/T	snv	1
rs397515578	ATP1A3	1.000	0.040	19	41984930	inframe deletion	CAG/-	delins	1
rs80356533	ATP1A3	1.000	0.040	19	41985082	missense variant	C/T	snv	1