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
rs1535500	LOC105375047 ; KCNK16 ; KCNK17	1.000	0.080	6	39316274	missense variant	G/T	snv	0.51	0.60	1
rs3734618	LOC105375047 ; KCNK16 ; KCNK17	1.000	0.080	6	39316408	synonymous variant	A/G	snv	0.52	0.62	1