DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variants associated to the Disease: Short neck ×

Variants associated to the Gene: RIT1 ×

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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
rs672601334	RIT1	0.752	0.400	1	155904798	missense variant	G/C	snv			17
rs730881014	RIT1	0.776	0.360	1	155904494	stop gained	A/C;G;T	snv			15