DisGeNET - a database of gene-disease associations

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Gene

Disease

Variant

Source

DSI _v

DPI _v

pLI

Consequence

AF_EXOME

AF_GENOME

Variant	Gene	Chr	Position	Consequence	Alleles	Class	AF EXOME	Num. diseases
rs1085307461	NF1	17	31219048	frameshift variant	A/-	delins		1
rs1131691066	NF1	17	31201024	intron variant	G/A	snv		1
rs1131691068	NF1	17	31219027	frameshift variant	AACCCAAGGCAGTA/-	delins		1
rs1131691069	NF1	17	31229096	frameshift variant	T/-	delins		1
rs1131691071	NF1	17	31337463	frameshift variant	CATTGCCTTCCGT/-	delins		1
rs1131691072	NF1	17	31258365	stop gained	C/T	snv		1
rs1131691074	NF1	17	31358518	stop gained	C/A	snv		1
rs1131691076	NF1	17	31337509	frameshift variant	GC/-	del		1
rs1131691078	NF1	17	31229367	frameshift variant	A/-	delins		1
rs1131691079	NF1	17	31338022	stop gained	C/A;G	snv		1
rs1131691080	NF1	17	31223567	missense variant	G/A;T	snv		1
rs1131691081	NF1	17	31330311	frameshift variant	TCTTCT/G;TCT	delins		1
rs1131691082	NF1	17	31343047	frameshift variant	G/-	delins		1
rs1131691083	NF1	17	31340610	frameshift variant	ATAC/-	delins		1
rs1131691085	NF1	17	31206257	stop gained	G/A	snv		1
rs1131691087	NF1	17	31249073	stop gained	C/G	snv		1
rs1131691088	NF1	17	31261760	frameshift variant	C/-	del	4.0E-06	1
rs1131691091	NF1	17	31337497	stop gained	C/G	snv		1
rs1131691093	NF1	17	31338035	stop gained	C/T	snv		1
rs1131691094	NF1	17	31181484	frameshift variant	-/A	delins		1
rs1131691098	NF1	17	31265266	frameshift variant	A/-	delins		1
rs1131691099	NF1	17	31226521	stop gained	G/A	snv		1
rs1131691102	NF1	17	31349125	frameshift variant	A/-	del		1
rs1131691104	NF1	17	31230366	stop gained	C/T	snv		1
rs1131691107	NF1	17	31350282	frameshift variant	-/T	delins		1