DisGeNET - a database of gene-disease associations

Source: ALL

Variants associated to the Disease: ZAP70 deficiency ×

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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
rs104893674	ZAP70	0.925	0.120	2	97737828	missense variant	C/A	snv			2
rs137853201	ZAP70	0.925	0.120	2	97737577	missense variant	G/A	snv	4.0E-06		2
rs113994172	ZAP70	1.000	0.120	2	97724275	missense variant	C/A	snv			1
rs113994173	ZAP70	1.000	0.120	2	97733464	non coding transcript exon variant	G/A	snv			1
rs113994174	ZAP70	1.000	0.120	2	97737576	missense variant	C/T	snv	8.0E-06	1.4E-05	1
rs113994175	ZAP70	1.000	0.120	2	97738085	missense variant	A/T	snv			1
rs1254428002	ZAP70	1.000	0.120	2	97734640	missense variant	T/G	snv		7.0E-06	1
rs1559328006	ZAP70	1.000	0.120	2	97735413	frameshift variant	-/T	delins			1