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
rs9330813	WNT7B	1.000	0.040	22	45968281	intron variant	G/A;C	snv			4
rs4608502	COL4A3 ; MFF-DT			2	227269439	intron variant	T/A;C	snv			3
rs3118515	LOC100506532			9	134544468	intron variant	G/A;C;T	snv			2
rs56009602	ADAMTS8			11	130419717	intron variant	C/A;T	snv			2
rs9822953	LINC00886			3	156754282	intron variant	C/G;T	snv			2
rs10161679				13	22669506	intergenic variant	G/A;C	snv			1
rs1412710	COL12A1			6	75127487	intron variant	T/A;C	snv			1
rs1536478	LOC100506532			9	134540402	intron variant	G/A;C	snv			1
rs3094339				9	134019616	intergenic variant	G/A;C	snv			1
rs3132303				9	134552452	upstream gene variant	C/G;T	snv			1
rs35028368	ADAMTS2			5	179244141	intron variant	-/A	delins			1
rs6445046	FNDC3B			3	172215462	intron variant	G/A;T	snv			1
rs6971897	TMEM248			7	66947787	intron variant	T/A;G	snv			1
rs7032489	COL5A1			9	134667929	intron variant	C/G;T	snv			1
rs8133436	COL6A2			21	46099621	intron variant	T/A;C	snv			1
rs28687756				16	88295322	intron variant	T/G	snv		6.5E-04	2
rs121908120	WNT10A	0.701	0.280	2	218890289	missense variant	T/A	snv	1.4E-02	1.4E-02	19
rs116878472	NT5DC3			12	103817214	intron variant	T/C	snv		1.9E-02	1
rs16920206				10	64725315	intergenic variant	T/C	snv		2.3E-02	1
rs115781177	LTBP1			2	33123427	intron variant	A/G	snv		5.6E-02	1
rs785422	TJP1			15	29881682	intron variant	C/T	snv		1.0E-01	2
rs28789690	NR3C2			4	148156748	intron variant	G/A	snv		0.12	1
rs11553764	GLT8D2			12	104021466	5 prime UTR variant	C/T	snv		0.13	2
rs11111869	GLT8D2			12	104008707	intron variant	G/A	snv		0.13	1
rs8030753	FBN1			15	48509738	intron variant	C/T	snv		0.15	1