DisGeNET - a database of gene-disease associations

Source: ALL

Variants associated to the Gene: NPM1 ×

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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
rs10040865	NPM1			5	171411280	downstream gene variant	G/A	snv		0.40	1
rs1057519744	NPM1	1.000	0.040	5	171410542	frameshift variant	-/CATG;CCTG;TCAG;TCTG	ins			1
rs1554138188	NPM1	1.000	0.040	5	171410541	frameshift variant	-/CATG;CGTG	delins			1
rs1554138189	NPM1	1.000	0.040	5	171410540	frameshift variant	-/CCTG	delins			1
rs1561878500	NPM1	1.000	0.040	5	171410549	frameshift variant	GGAGGAA/CCCTGGCTAGG	delins			1
rs587776806	NPM1	1.000	0.040	5	171410539	frameshift variant	-/TCTG	delins			1
rs78276384	NPM1 ; MIR3912			5	171388517	intron variant	C/T	snv		0.11	1