DisGeNET - a database of gene-disease associations

List of associated variants

FEINGOLD SYNDROME 1, C4551774

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
rs1553370918	MYCN	0.851	0.360	2	15945602	frameshift variant	TG/-	delins			6
rs104893648	MYCN	0.882	0.320	2	15945883	missense variant	G/A;T	snv			4
rs759103701	MYCN	0.925	0.320	2	15945666	stop gained	C/G;T	snv	4.0E-06		4
rs1553370260	MYCN ; MYCNOS	0.925	0.320	2	15942129	frameshift variant	-/CGCT	delins			4
rs367962377	MYCN	1.000	0.320	2	15945716	stop gained	C/A;T	snv	8.0E-06	2.1E-05	2
rs104893646	MYCN	1.000	0.320	2	15945880	missense variant	G/A	snv			1
rs104893647	MYCN	1.000	0.320	2	15945879	missense variant	C/A	snv			1
rs121913666	MYCN	1.000	0.320	2	15945847	missense variant	G/A	snv			1
rs1553370963	MYCN	1.000	0.320	2	15945762	frameshift variant	-/C	delins			1
rs754137452	MYCN	1.000	0.320	2	15945819	stop gained	C/A;T	snv	4.0E-06; 4.0E-06		1
rs113994115	MYCN ; MYCNOS	1.000	0.320	2	15942281	stop gained	G/T	snv			1
rs1558534266	MYCNOS ; MYCN	1.000	0.320	2	15942686	frameshift variant	-/C	delins			1