DisGeNET - a database of gene-disease associations

Source: GWASCAT

Variants associated to the Disease: Body Height ×

Variants associated to the Gene: KCNQ1 ×

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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
rs143840904	KCNQ1			11	2792092	intron variant	C/T	snv		1.5E-02	1
rs2237886	KCNQ1			11	2789501	intron variant	C/T	snv		9.3E-02	1
rs2283163	KCNQ1			11	2555665	intron variant	G/A	snv		0.14	1
rs234886	KCNQ1			11	2780860	intron variant	G/C	snv		0.88	1
rs3216306	KCNQ1			11	2705478	intron variant	G/-;GG	delins		0.11	1
rs61869763	KCNQ1			11	2792115	intron variant	C/T	snv		7.6E-02	1
rs7128926	KCNQ1OT1 ; KCNQ1			11	2675514	non coding transcript exon variant	A/G	snv		0.23	1