DisGeNET - a database of gene-disease associations

List of associated variants

Fibrosis Of Extraocular Muscles, Congenital, 1, C1851102

Source: ALL

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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
rs121912585	KIF21A	0.851	0.160	12	39332405	missense variant	G/A	snv			4
rs121912586	KIF21A	0.882	0.160	12	39332404	missense variant	C/T	snv			3
rs121912587	KIF21A	1.000	0.160	12	39332236	missense variant	A/G	snv			1
rs121912588	KIF21A	1.000	0.160	12	39358326	missense variant	A/G	snv			1
rs121912589	KIF21A	1.000	0.160	12	39332608	missense variant	T/C	snv			1
rs121912590	KIF21A	1.000	0.160	12	39332607	missense variant	A/C	snv			1
rs864321718	KIF21A	1.000	0.160	12	39370222	missense variant	G/A;C	snv	4.0E-06		1