DisGeNET - a database of gene-disease associations

Source: UNIPROT

Variants associated to the Disease: ZIMMERMANN-LABAND SYNDROME 1 ×

Variants associated to the Gene: KCNH1 ×

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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
rs727502819	KCNH1	0.925	0.280	1	210804149	missense variant	T/C	snv			2
rs730882172	KCNH1	1.000	0.120	1	210920047	missense variant	G/T	snv			1
rs730882173	KCNH1	1.000	0.120	1	210919955	missense variant	C/G	snv			1
rs730882174	KCNH1	1.000	0.120	1	210919979	missense variant	C/T	snv			1
rs730882175	KCNH1	1.000	0.120	1	210804143	missense variant	C/T	snv			1
rs730882176	KCNH1	1.000	0.120	1	210919967	missense variant	G/C	snv			1