DisGeNET - a database of gene-disease associations

List of associated variants

Atypical Lipoma, C1266129

Source: ALL

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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
rs121913500	IDH1	0.529	0.600	2	208248388	missense variant	C/A;G;T	snv	4.0E-06		96
rs3826795	HIF3A	0.925	0.120	19	46297176	intron variant	G/A;T	snv			2