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
rs13280442				8	11610048	intergenic variant	C/A;G	snv		3
rs17367504	MTHFR	1.000	0.040	1	11802721	intron variant	A/G	snv	0.14	9
rs3753584	MTHFR ; CLCN6	0.827	0.080	1	11804529	5 prime UTR variant	T/C	snv	0.14	10
rs17037452	CLCN6			1	11835618	intron variant	A/G	snv	0.18	3
rs62434109	PLEKHG1			6	150654176	intron variant	T/G	snv	8.4E-02	5
rs13139571	LOC107984032 ; GUCY1A1	1.000	0.040	4	155724361	intron variant	C/A	snv	0.22	9
rs1952652	LINC02227			5	158384080	intron variant	A/T	snv	0.28	3
rs11953630				5	158418394	intergenic variant	C/A;T	snv		6
rs11023906	SOX6			11	16302860	intron variant	G/A	snv	0.17	3
rs438885				2	164195781	intron variant	A/T	snv	0.56	5
rs381815	PLEKHA7	1.000	0.040	11	16880721	intron variant	C/A;T	snv	0.24	6
rs1290784	MECOM			3	169379112	intron variant	C/A;T	snv		6
rs419076	MECOM			3	169383098	intron variant	T/A;C	snv		6
rs448378	MECOM	1.000	0.040	3	169383111	intron variant	G/A;C	snv		5
rs2014590	MECOM			3	169428709	intron variant	C/T	snv	0.53	2
rs11693319	CCDC141			2	178873542	3 prime UTR variant	C/G;T	snv		2
rs4373814				10	18131043	intergenic variant	G/C;T	snv		5
rs1813353	CACNB2			10	18418519	intron variant	T/C	snv	0.29	5
rs11014166	CACNB2	0.882	0.040	10	18419869	intron variant	A/T	snv	0.27	10
rs17613287	CACNB2			10	18430748	intron variant	A/T	snv	0.27	4
rs588321	LSP1			11	1875727	intron variant	G/C;T	snv		3
rs576603				11	1892909	upstream gene variant	C/A;G;T	snv		2
rs7577262				2	233910224	intergenic variant	G/A;T	snv		4
rs937741	LOC105370728			15	23402264	upstream gene variant	C/A;G	snv		2
rs11158609	NEDD8 ; NEDD8-MDP1			14	24219608	intron variant	G/A	snv	0.89	2