DisGeNET - a database of gene-disease associations

List of associated variants

Intermittent hypothermia, C1837639

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
rs771317809	DDC ; FIGNL1	0.925	0.080	7	50470140	missense variant	C/T	snv	8.0E-06		6
rs1554411234	DDC ; FIGNL1	1.000		7	50463322	missense variant	C/A	snv			5