DisGeNET - a database of gene-disease associations

Source: BEFREE

Variants associated to the Disease: Central neuroblastoma ×

Variants associated to the Gene: ALK ×

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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			12
rs1057519697	ALK	0.776	0.120	2	29220830	missense variant	A/C	snv			10
rs863225281	ALK	0.776	0.200	2	29220829	missense variant	G/C;T	snv			9
rs113994087	ALK	0.827	0.120	2	29209798	missense variant	C/A;T	snv			8
rs863225285	ALK	0.851	0.080	2	29209789	missense variant	T/G	snv			3