DisGeNET - a database of gene-disease associations

List of associated variants

MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 13, C4225365

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
rs80356610	KCNJ11	0.827	0.080	11	17387968	missense variant	A/G	snv			6
rs267607196	KCNJ11	0.827	0.160	11	17387248	missense variant	C/T	snv	2.4E-05	2.8E-05	5
rs587783672	KCNJ11	0.882	0.080	11	17387413	missense variant	C/T	snv	4.0E-06		5
rs1554901596	KCNJ11	0.925	0.080	11	17387124	frameshift variant	-/C	delins			2
rs1564865302	KCNJ11	0.925	0.040	11	17387395	missense variant	G/A	snv			2