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
rs4680	COMT ; MIR4761	0.442	0.920	22	19963748	missense variant	G/A	snv	0.46	0.44	249
rs53576	OXTR ; CAV3	0.641	0.320	3	8762685	intron variant	A/G;T	snv			42
rs6296	HTR1B ; LOC105377864	0.732	0.160	6	77462543	synonymous variant	C/G	snv	0.31	0.27	23