DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variants associated to the Disease: Dysmorphic features ×

Variants associated to the Gene: NF1 ×

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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
rs137854562	NF1	0.925	0.120	17	31235623	stop gained	C/T	snv			4
rs1555533842	NF1	1.000		17	31330303	frameshift variant	-/C	delins			3
rs1064794276	NF1	0.925	0.120	17	31235639	frameshift variant	TTTG/-	delins			2
rs1555534380	NF1	1.000		17	31334860	stop gained	T/A	snv			1
rs1555535052	NF1	1.000		17	31338798	frameshift variant	-/TA	delins			1