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
rs1553655558	TRIP12	0.752	0.360	2	229830831	frameshift variant	A/-	delins	43
rs587776983	TUBB4A	0.807	0.240	19	6502209	missense variant	G/A;C;T	snv	2
rs121434591	MATR3	1.000		5	139307669	missense variant	C/G	snv	1