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
rs1264622	HLA-L ; HCG18 ; HCG17	1.000	0.120	6	30289159	non coding transcript exon variant	C/T	snv		0.13	2
rs577217250	HCG18 ; HCG17			6	30308903	intron variant	TTTT/-;T;TT;TTT;TTTTT;TTTTTT;TTTTTTTTTTTTTTTT	delins			1