DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variants associated to the Disease: Leukemia, Myelocytic, Acute ×

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
rs1057519906	IDH2	0.882	0.120	15	90088607	missense variant	T/A;C	snv			5
rs121913503	IDH2	0.689	0.200	15	90088606	missense variant	C/A;T	snv			5
rs1057519736	IDH2	0.752	0.160	15	90088605	missense variant	C/G	snv			1