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 EXOME	AF GENOME	Num. diseases
rs96067	COL8A2			1	36106319	intron variant	G/A	snv		0.73	2
rs4846476	TGFB2			1	218352886	intron variant	G/C	snv		0.22	1
rs121908120	WNT10A	0.701	0.280	2	218890289	missense variant	T/A	snv	1.4E-02	1.4E-02	19
rs4608502	COL4A3 ; MFF-DT			2	227269439	intron variant	T/A;C	snv			3
rs115781177	LTBP1			2	33123427	intron variant	A/G	snv		5.6E-02	1
rs13024279				2	234563951	intergenic variant	A/G	snv		0.47	1
rs9822953	LINC00886			3	156754282	intron variant	C/G;T	snv			2
rs6445046	FNDC3B			3	172215462	intron variant	G/A;T	snv			1
rs28789690	NR3C2			4	148156748	intron variant	G/A	snv		0.12	1
rs10064391	ADAMTS6			5	65390832	intron variant	A/G	snv		0.37	1
rs10471310	ADAMTS6			5	65253134	intron variant	C/T	snv		0.37	1
rs1309531	CWC27			5	65010484	intron variant	A/T	snv		0.42	1
rs249767	SPRY4-AS1			5	142539020	intron variant	T/C	snv		0.41	1
rs35028368	ADAMTS2			5	179244141	intron variant	-/A	delins			1
rs13191376	RUNX2 ; RUNX2-AS1			6	45554402	intron variant	C/G;T	snv		0.27	1
rs1412710	COL12A1			6	75127487	intron variant	T/A;C	snv			1
rs1931656	LINC02542			6	81900471	intron variant	A/T	snv		0.53	1
rs9361886	LOC107986617 ; LINC02542			6	82068785	intron variant	T/C	snv		0.45	1
rs2106166				7	93039018	intergenic variant	A/T	snv		0.44	1
rs6971897	TMEM248			7	66947787	intron variant	T/A;G	snv			1
rs10429294	NDUFAF6			8	94957094	intron variant	C/T	snv		0.50	1
rs3808520	LOXL2			8	23307260	intron variant	G/C	snv		0.17	1
rs1536482		1.000	0.040	9	134548682	upstream gene variant	G/A	snv		0.36	3
rs3118515	LOC100506532			9	134544468	intron variant	G/A;C;T	snv			2
rs3118520				9	134549749	upstream gene variant	A/G	snv		0.49	2