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	Chr	Position	Consequence	Alleles	Class	AF EXOME	AF GENOME	Num. diseases
rs141634423	HAL	12	95983909	splice donor variant	A/G	snv	2.0E-04	1.3E-04	1
rs34457757	HAL	12	95987154	stop gained	G/A;C	snv	6.5E-04		1
rs76945459	HAL ; LOC102723340	12	95994932	splice donor variant	C/T	snv	8.0E-06	7.0E-06	1