DisGeNET - a database of gene-disease associations

List of associated variants

Klein's Syndrome, C0079661

Source: ALL

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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
rs104893651	CCDC140 ; PAX3	0.925	0.040	2	222297048	missense variant	G/A	snv			2
rs1228590199	PAX3 ; LOC107985991	0.925	0.040	2	222221372	missense variant	G/A	snv	4.0E-06	7.0E-06	2
rs104893653	CCDC140 ; PAX3	1.000	0.040	2	222297160	missense variant	T/G	snv			1
rs1559318494	PAX3	1.000	0.040	2	222295581	frameshift variant	TTTCCCAGCTGAA/-	delins			1
rs104893654	PAX3 ; CCDC140	1.000	0.040	2	222297031	missense variant	A/G	snv			1