DisGeNET - a database of gene-disease associations

List of associated variants

hereditary neuroblastoma, C3899155

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
rs281864719	ALK	0.763	0.240	2	29220831	missense variant	A/C;G;T	snv			14
rs113994087	ALK	0.827	0.120	2	29209798	missense variant	C/A;T	snv			12
rs863225281	ALK	0.776	0.200	2	29220829	missense variant	G/C;T	snv			12
rs864309584	ALK	0.925	0.080	2	29223430	missense variant	C/T	snv		7.0E-06	2