DisGeNET - a database of gene-disease associations

Source: CLINVAR ×

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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	Num. diseases
rs1554317002	LOC112267983 ; CDK13	0.724	0.440	7	39950821	frameshift variant	C/-	delins	45
rs1568019012	LAMA1	0.790	0.360	18	6985616	stop gained	G/A	snv	13
rs1057518891	CHD7	0.851	0.120	8	60854479	stop gained	C/T	snv	6