DisGeNET - a database of gene-disease associations

Source: ALL

Variants associated to the Disease: Agenesis ×

Variants associated to the Gene: IRF6 ×

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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
rs2235371	IRF6	0.752	0.360	1	209790735	missense variant	C/T	snv	8.7E-02	3.9E-02	11
rs861019	IRF6	0.925	0.120	1	209802041	splice region variant	A/G	snv		0.44	2
rs17015215	IRF6	1.000		1	209790735	missense variant	C/T	snv			1
rs7802	IRF6 ; C1orf74	1.000		1	209785814	3 prime UTR variant	A/G	snv		7.0E-04	1