DisGeNET - a database of gene-disease associations

Source: ALL

Variants associated to the Gene: NSD1 ×

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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
rs587784177	NSD1	0.790	0.280	5	177283827	missense variant	G/A	snv			20
rs587784105	NSD1	0.732	0.440	5	177235863	stop gained	G/A	snv			19
rs1554199368	NSD1	0.827	0.160	5	177256956	missense variant	C/T	snv			12
rs1057516048	NSD1	0.925	0.200	5	177283796	missense variant	A/T	snv			8
rs3088050	NSD1			5	177299634	3 prime UTR variant	G/A	snv		0.18	3
rs794727176	NSD1	0.882	0.080	5	177269630	stop gained	C/T	snv			3
rs1486617808	NSD1			5	177209916	missense variant	C/T	snv		1.4E-05	2
rs1554189042	NSD1	1.000		5	177210101	stop gained	-/AG	ins			2
rs1562206791	NSD1	0.925	0.080	5	177210250	frameshift variant	A/-	delins			2
rs374740802	NSD1	0.925	0.040	5	177210749	stop gained	C/G;T	snv	1.6E-05		2
rs570278338	NSD1	0.925	0.040	5	177246710	stop gained	C/G;T	snv	4.0E-06		2
rs587784076	NSD1	0.925	0.040	5	177210209	stop gained	C/T	snv			2
rs587784095	NSD1	0.925	0.040	5	177211466	stop gained	C/A;T	snv			2
rs587784104	NSD1	0.925	0.040	5	177212056	frameshift variant	AG/-	delins			2
rs587784115	NSD1	0.925	0.080	5	177244271	splice donor variant	G/A	snv			2
rs587784117	NSD1	0.925	0.040	5	177246716	stop gained	C/T	snv			2
rs587784141	NSD1	0.925	0.040	5	177267719	splice donor variant	G/C	snv			2
rs587784148	NSD1	0.925	0.040	5	177269729	stop gained	C/T	snv			2
rs587784169	NSD1	0.925	0.040	5	177282523	missense variant	G/A;C	snv			2
rs587784170	NSD1	0.925	0.080	5	177282537	stop gained	C/T	snv			2
rs587784173	NSD1	0.925	0.040	5	177283790	stop gained	C/T	snv			2
rs587784174	NSD1	0.925	0.040	5	177283791	missense variant	G/A	snv			2
rs587784176	NSD1	0.925	0.040	5	177283826	missense variant	C/A;T	snv			2
rs587784190	NSD1	0.925	0.040	5	177292044	stop gained	C/T	snv			2
rs587784191	NSD1	0.925	0.040	5	177292051	missense variant	A/G	snv			2