DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variants associated to the Disease: IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA ×

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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
rs1057519922	NFE2L2	0.790	0.200	2	177234082	missense variant	C/G;T	snv			7
rs1553488015	NFE2L2	0.925	0.080	2	177234226	missense variant	C/T	snv			2
rs1553487942	NFE2L2	1.000		2	177234076	missense variant	C/T	snv			1
rs1553487947	NFE2L2	1.000		2	177234078	missense variant	G/T	snv			1