DisGeNET - a database of gene-disease associations

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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 GENOME	Num. diseases
rs1002054	MAPK1IP1L			14	55062195	intron variant	A/C;T	snv		1
rs1003645	CCL23 ; LOC107985068			17	36013244	missense variant	T/C	snv	0.40	1
rs10083777	LOC107984858 ; CENPN			16	81031677	intron variant	C/T	snv	0.15	2
rs1009647	ATG14	1.000	0.120	14	55413329	upstream gene variant	G/A	snv	0.24	2
rs1009648	ATG14			14	55413451	upstream gene variant	T/C	snv	0.28	1
rs1009714	KTN1-AS1			14	55512820	intron variant	A/G;T	snv		1
rs1009977	LGALS3	1.000	0.040	14	55136284	intron variant	T/G	snv	0.48	2
rs1009978	LGALS3			14	55136343	intron variant	C/G;T	snv		1
rs10129505	FBXO34			14	55309657	intron variant	C/T	snv	0.30	1
rs10130783				14	55714800	intergenic variant	G/A	snv	0.25	1
rs10131232	GCH1			14	54849190	intron variant	G/A	snv	0.45	1
rs10131730	ATG14			14	55373374	intron variant	C/T	snv	0.30	1
rs10133662	GCH1			14	54849552	intron variant	A/G	snv	0.45	1
rs10134019	KTN1-AS1			14	55530274	intron variant	T/G	snv	0.54	1
rs10134317	FBXO34			14	55326730	intron variant	C/A;G;T	snv		1
rs10134339	FBXO34			14	55347662	intron variant	T/C	snv	0.57	1
rs10134800	DLGAP5			14	55168491	intron variant	A/G;T	snv		1
rs10134983	DLGAP5			14	55168605	intron variant	C/A;T	snv		1
rs10135789				14	54825302	intergenic variant	A/G	snv	0.45	1
rs10136596	ATG14			14	55370055	intron variant	A/G;T	snv		1
rs10137307	ATG14			14	55378467	intron variant	T/C	snv	0.36	1
rs10138446	ATG14			14	55412967	upstream gene variant	A/G;T	snv		1
rs10139354	WDHD1			14	55011884	intron variant	C/T	snv	0.43	1
rs10140164	WDHD1			14	54939405	3 prime UTR variant	A/G	snv	0.50	1
rs10140801	LOC105370509			14	55263686	intron variant	C/T	snv	0.55	1