DisGeNET - a database of gene-disease associations

Source: CURATED

Variants associated to the Disease: Bipolar Disorder ×

Variants associated to the Gene: NEK4 ×

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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
rs12497998	NEK4	0.925	0.040	3	52759586	intron variant	C/T	snv		0.46	2
rs2072390	NEK4	0.925	0.040	3	52746493	intron variant	A/T	snv		0.46	2
rs2230535	NEK4	0.925	0.040	3	52766268	synonymous variant	T/C	snv	0.40	0.34	2
rs2268026	NEK4	0.925	0.040	3	52744331	intron variant	T/C	snv	0.40	0.34	2
rs2336545	NEK4	0.925	0.040	3	52753587	non coding transcript exon variant	T/C	snv		0.34	2