DisGeNET - a database of gene-disease associations

Source: ALL

Variants associated to the Gene: AKAP13 ×

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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
rs34434221	AKAP13	0.882	0.080	15	85579644	missense variant	A/C	snv	2.2E-02	2.2E-02	3
rs12909648	AKAP13			15	85681339	intron variant	G/A	snv		0.40	2
rs10520597	AKAP13			15	85627024	intron variant	G/A	snv		0.27	1
rs12907384	AKAP13			15	85732769	intron variant	T/A;C	snv			1
rs16941432	AKAP13			15	85559945	intron variant	A/G	snv		0.37	1
rs2169876	AKAP13			15	85542545	intron variant	T/A;C	snv			1
rs2169877	AKAP13			15	85542571	intron variant	G/A	snv		0.70	1
rs2241268	AKAP13	1.000	0.080	15	85735078	missense variant	G/A	snv	0.22	0.19	1
rs2880765	AKAP13	1.000	0.040	15	85513231	intron variant	A/T	snv		0.48	1
rs338533	AKAP13			15	85708862	intron variant	G/T	snv		0.24	1
rs4843075	AKAP13	1.000	0.080	15	85581324	missense variant	G/A;C	snv	0.61; 4.0E-06		1
rs56241813	AKAP13			15	85721280	intron variant	G/A	snv		7.0E-02	1
rs62022112	AKAP13			15	85466377	intron variant	T/G	snv		0.14	1
rs62024517	AKAP13			15	85404905	intron variant	T/C	snv		0.14	1
rs74346567	AKAP13			15	85706491	intron variant	G/A	snv		6.1E-02	1