DisGeNET - a database of gene-disease associations

Source: GWASCAT

Variants associated to the Gene: CLPTM1L ×

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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
rs401681	CLPTM1L	0.620	0.640	5	1321972	intron variant	C/T	snv		0.48	11
rs10462706	CLPTM1L	0.827	0.080	5	1343679	intron variant	C/T	snv		0.14	6
rs380286	CLPTM1L	0.776	0.200	5	1320132	intron variant	G/A	snv		0.47	5
rs421284	CLPTM1L	0.882	0.040	5	1325475	non coding transcript exon variant	T/C;G	snv			3
rs31490	CLPTM1L	0.776	0.280	5	1344343	splice region variant	G/A;T	snv	0.37; 8.0E-06		3
rs381949	CLPTM1L	1.000	0.040	5	1322353	intron variant	G/A	snv		0.44	3
rs31489	CLPTM1L	0.763	0.320	5	1342599	intron variant	C/A	snv		0.41	2
rs75630086	CLPTM1L			5	1323611	intron variant	G/C	snv		4.3E-02	2
rs467095	CLPTM1L	0.925	0.160	5	1336106	intron variant	T/C	snv		0.50	1
rs452932	CLPTM1L	0.925	0.160	5	1330138	intron variant	T/C	snv		0.46	1
rs421629	CLPTM1L	0.925	0.160	5	1320021	intron variant	G/A	snv		0.50	1