DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variants associated to the Disease: Scoliosis, unspecified ×

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