DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variants associated to the Disease: Squamous cell carcinoma of the head and neck ×

Variants associated to the Gene: IDH2 ×

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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
rs121913502	IDH2	0.708	0.320	15	90088702	missense variant	C/A;T	snv	3.2E-05		6
rs267606870	IDH2	0.763	0.280	15	90088703	missense variant	G/A;C	snv			6