DisGeNET - a database of gene-disease associations

Source: GWASDB ×

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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
rs11568746	TGFBR1			9	99105926	intron variant	C/G	snv		2.1E-05	6
rs598962	ABCD3			1	94451093	intron variant	A/C;G	snv			3
rs12087003	ABCA4			1	94037627	intron variant	A/G	snv		6.3E-02	3
rs11806129	ABCA4			1	94016821	intron variant	A/G;T	snv			3
rs9987289	LOC157273	1.000	0.040	8	9325848	non coding transcript exon variant	A/G	snv		0.87	8
rs12248199	NRG3			10	82032473	intron variant	G/A	snv		4.0E-02	3
rs12258934	NRG3			10	82015079	intron variant	T/C	snv		5.1E-02	4
rs16916733	FOXJ2			12	8043372	intron variant	C/T	snv		4.4E-02	3
rs4704220	CERT1			5	75461731	intron variant	G/A	snv		0.55	5
rs4385188	CERT1			5	75438537	intron variant	A/G	snv		0.33	4
rs3804231	CERT1			5	75400954	non coding transcript exon variant	G/A	snv		0.12	3
rs6453133	CERT1			5	75396951	intron variant	A/G;T	snv			3
rs12916	HMGCR ; CERT1	0.807	0.240	5	75360714	3 prime UTR variant	T/C;G	snv		0.37	3
rs3846662	HMGCR	0.763	0.280	5	75355259	non coding transcript exon variant	A/G	snv	0.50	0.58	5
rs12654264	HMGCR	0.925	0.120	5	75352778	intron variant	A/T	snv		0.38	5
rs17238484	HMGCR	1.000	0.080	5	75352671	intron variant	G/T	snv		0.22	3
rs6453131	HMGCR			5	75348881	intron variant	T/G	snv		0.39	3
rs10474434	HMGCR			5	75348856	intron variant	G/T	snv		0.20	3
rs10038095	HMGCR			5	75341886	intron variant	A/T	snv		0.38	3
rs3761739	HMGCR			5	75335676	intron variant	C/T	snv		0.15	3
rs737410	ARRB1			11	75315038	intron variant	A/G	snv		4.3E-02	6
rs7952044	ARRB1			11	75276639	intron variant	C/T	snv		1.3E-02	3
rs16957552	BCAR1			16	75235226	missense variant	T/C	snv	6.8E-03	2.8E-02	4
rs34604640	KCNE3			11	74457448	missense variant	G/C	snv	1.0E-04	1.3E-04	4
rs1874148	VCL			10	74114657	intron variant	A/G	snv		1.8E-02	6