DisGeNET - a database of gene-disease associations

Source: GWASCAT

Variants associated to the Gene: EXOC3L2 ×

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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
rs73036519	EXOC3L2 ; MARK4	0.851	0.040	19	45245104	intron variant	G/A;C	snv			5
rs73036517	MARK4 ; EXOC3L2			19	45241584	intron variant	A/G	snv		0.20	4
rs11083766	BLOC1S3 ; EXOC3L2 ; MARK4			19	45212232	intron variant	T/C	snv		0.26	2
rs11673093	EXOC3L2 ; MARK4	1.000	0.040	19	45238836	synonymous variant	G/A	snv		0.22	2
rs11669910	EXOC3L2 ; MARK4			19	45238075	intron variant	A/T	snv		0.23	2
rs11673000	EXOC3L2 ; MARK4			19	45238753	missense variant	C/G;T	snv			2
rs62118504	MARK4 ; EXOC3L2	1.000	0.080	19	45231493	intron variant	A/G	snv		0.32	2
rs346763	EXOC3L2 ; MARK4	1.000	0.080	19	45226017	intron variant	G/A	snv		0.10	1
rs346758	EXOC3L2 ; MARK4	1.000	0.080	19	45222481	intron variant	A/G	snv		0.25	1
rs346757	EXOC3L2 ; MARK4	1.000	0.080	19	45222190	intron variant	G/C;T	snv			1
rs17356664	EXOC3L2 ; MARK4			19	45237513	intron variant	C/T	snv		0.28	1
rs145605569	EXOC3L2 ; MARK4			19	45239644	intron variant	C/T	snv		0.21	1
rs11669915	EXOC3L2 ; MARK4			19	45238095	intron variant	A/G	snv		0.23	1
rs75727214	EXOC3L2 ; MARK4			19	45233891	intron variant	G/C	snv		9.9E-03	1
rs3803906	EXOC3L2 ; MARK4 ; BLOC1S3			19	45212718	3 prime UTR variant	A/C;G	snv			1
rs11667829	MARK4 ; EXOC3L2	1.000	0.080	19	45236417	intron variant	G/A	snv		0.25	1
rs12461144	MARK4 ; EXOC3L2	1.000	0.080	19	45220448	intron variant	C/T	snv		0.22	1
rs346750	MARK4 ; EXOC3L2			19	45233960	intron variant	A/C	snv		0.41	1
rs11667509	MARK4 ; EXOC3L2 ; BLOC1S3			19	45212934	3 prime UTR variant	G/C	snv		0.28	1