DisGeNET - a database of gene-disease associations

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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
rs301430	SLC1A1 ; SPATA6L	0.827	0.080	9	4576680	synonymous variant	T/C	snv	0.36	0.38	7
rs1805477	GRIN2B	0.882	0.080	12	13561795	3 prime UTR variant	T/A;C;G	snv			3