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
rs1043679457	ERCC8	0.752	0.400	5	60927745	intron variant	C/A;G;T	snv	33
rs267608327	MECP2	0.763	0.200	X	154030631	splice acceptor variant	CCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGT/-	delins	25
rs1555745467	CACNA1A	0.752	0.240	19	13262771	missense variant	C/A	snv	23