DisGeNET - a database of gene-disease associations

Variant: rs1554703613 ×

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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
rs1554703613	ELP1	1.000	0.080	9	108929922	splice acceptor variant	C/A;T	snv			1