DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variants associated to the Disease: CAPOS syndrome ×

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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
rs267606670	ATP1A3	0.790	0.320	19	41968837	missense variant	C/A;T	snv			17
rs606231435	ATP1A3	0.827	0.240	19	41970539	missense variant	C/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
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
rs587777771	ATP1A3	0.851	0.240	19	41970275	missense variant	C/T	snv			3
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