DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variants associated to the Disease: Malignant Uterine Corpus Neoplasm ×

Variants associated to the Gene: NFE2L2 ×

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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
rs1057519920	NFE2L2	0.790	0.160	2	177234232	missense variant	C/A;G;T	snv			7
rs1057519921	NFE2L2	0.763	0.240	2	177234231	missense variant	T/C	snv			7