DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variants associated to the Disease: Pediatric failure to thrive ×

Variants associated to the Gene: MDH2 ×

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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
rs1057519566	MDH2	0.851	0.160	7	76063579	missense variant	C/T	snv			7
rs375002796	MDH2	0.851	0.160	7	76058047	missense variant	C/T	snv	5.2E-05	2.8E-05	7