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
rs12445568	STX1B	0.925	0.040	16	30993491	splice region variant	T/C	snv	0.39	0.38	1
rs13708	STX1B ; HSD3B7	1.000	0.040	16	30989488	3 prime UTR variant	G/A;C	snv		0.52	1