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
rs11558538	LOC107985948 ; HNMT	0.695	0.400	2	138002079	missense variant	C/T	snv	1.0E-01	8.4E-02	19
rs5751876	ADORA2A ; ADORA2A-AS1 ; SPECC1L-ADORA2A	0.742	0.320	22	24441333	synonymous variant	T/C	snv	0.54	0.52	16