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
rs7786877				7	100616392	downstream gene variant	A/G	snv		0.22	3
rs7385804	TFR2	0.851	0.120	7	100638347	intron variant	C/A	snv		0.65	14
rs4434553	TFR2	1.000	0.040	7	100642568	intron variant	A/G	snv		0.40	5
rs116979562	EPHB4			7	100816525	intron variant	G/A	snv		1.6E-02	2
rs2290707	RRM2B ; UBR5-AS1			8	102239027	upstream gene variant	C/A	snv		2.8E-02	2
rs4900538	LOC105370680			14	102527728	intergenic variant	T/A;C;G	snv			2
rs200510190	CNNM2			10	103031838	intron variant	C/-	del		0.41	2
rs7916093	LOC102724351			10	103958628	intergenic variant	T/C	snv		0.16	2
rs9521017	MYO16			13	108766811	intron variant	G/T	snv		0.32	2
rs9487023	CCDC162P			6	109268801	intron variant	A/G	snv		0.40	8
rs11966072	CCDC162P			6	109313625	intron variant	A/G	snv		0.26	4
rs61358232				13	109749719	downstream gene variant	A/T	snv		0.27	2
rs4771651	LOC105370360			13	109804341	intron variant	G/A	snv		0.36	2
rs35188965	SLC12A7			5	1104823	intron variant	C/G;T	snv			12
rs10197140	ACOXL			2	110852366	intron variant	T/C	snv		0.28	3
rs4848370	ACOXL ; MIR4435-2HG			2	111054088	intron variant	C/T	snv		0.25	2
rs79105258	CUX2			12	111280427	intron variant	C/A;T	snv			24
rs62160676	MIR4435-2HG			2	111410354	intron variant	T/C;G	snv			5
rs671	ALDH2	0.529	0.840	12	111803962	missense variant	G/A	snv	1.9E-02	5.8E-03	116
rs71446622	ATP11A			13	112711166	intron variant	G/A	snv		8.1E-02	2
rs61966459	PCID2			13	113198721	intron variant	A/G	snv		0.24	2
rs826415	TENT5C			1	117611355	intron variant	T/G	snv		0.27	2
rs10923397				1	117708521	regulatory region variant	C/T	snv		0.14	2
rs1578741				1	117716081	intergenic variant	A/C	snv		0.19	2
rs117747069	NPRL3			16	120077	intron variant	G/C	snv		2.5E-02	4