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 GENOME	Num. diseases
rs432007	CFHR1	1.000	0.040	1	196823334	intron variant	A/C;T	snv		1
rs436719	CFHR1	1.000	0.040	1	196818614	upstream gene variant	T/G	snv	0.43	1
rs438781	CFHR1	1.000	0.040	1	196827110	intron variant	T/A	snv	0.49	1