DisGeNET - a database of gene-disease associations

List of associated variants

Short Qt Syndrome, C2348199

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
rs104894021	KCNH2	0.851	0.120	7	150951629	missense variant	G/C;T	snv			5
rs104894584	KCNJ2	0.851	0.120	17	70175553	missense variant	G/A	snv			5
rs199472687	KCNQ1	0.827	0.120	11	2527962	missense variant	G/A	snv			5
rs120074195	KCNQ1	0.925	0.120	11	2572984	missense variant	G/A;C	snv			3
rs199472947	KCNH2	1.000	0.080	7	150951540	missense variant	G/A;C	snv			1