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	Chr	Position	Consequence	Alleles	Class	AF EXOME	AF GENOME	Num. diseases
rs6817952	ART3 ; CXCL11	4	76035890	intron variant	G/A;T	snv	0.16; 4.3E-06		1
rs76527535	BOK-AS1	2	241545286	intron variant	C/T	snv		0.20	1
rs9836291	BSN	3	49660026	intron variant	G/A	snv		0.30	1
rs34856868	BTBD8	1	92088726	missense variant	G/A	snv	2.0E-02	2.0E-02	1
rs17207042	CD226	18	69870115	intron variant	T/C	snv		0.40	1
rs2328546	CDKAL1	6	20657114	intron variant	T/C	snv		0.81	1
rs16953946	CDYL2	16	80751551	intron variant	T/A;C	snv			1
rs747581281	CFP	X	47624319	missense variant	G/C	snv	3.3E-05		1
rs72810983	CPEB4	5	173891251	intron variant	A/G	snv		0.23	1
rs58468612	CREM	10	35207699	intron variant	G/A	snv		0.14	1
rs1280165854	CRLF1	19	18596702	missense variant	G/A	snv		7.0E-06	1
rs4821558	CSF2RB	22	36912743	upstream gene variant	T/C	snv		0.20	1
rs1648234	CSRP3-AS1	11	19308167	intron variant	G/A	snv		0.72	1
rs778180128	CYBC1	17	82449249	stop gained	G/C	snv			1
rs490608	DAP3	1	155713079	intron variant	C/T	snv		0.48	1
rs4911259	DNMT3B	20	32788476	intron variant	T/G	snv		0.42	1
rs11612508	DUSP16	12	12504579	intron variant	A/G	snv		0.22	1
rs564349	ERGIC1	5	172897975	3 prime UTR variant	G/A	snv		0.73	1
rs34694289	FCER2	19	7689215	missense variant	G/A;C	snv	2.4E-03; 1.6E-05		1
rs2231884	FIBP ; CCDC85B	11	65889093	upstream gene variant	C/T	snv		0.16	1
rs2279990	FOSL2	2	28413873	3 prime UTR variant	A/G	snv		0.41	1
rs2593855	FOXP1	3	71126344	intron variant	C/T	snv		0.30	1
rs55808324	GALC	14	87978408	intron variant	G/A	snv		0.19	1
rs9557195	GPR183 ; UBAC2	13	99304368	intron variant	T/C	snv		0.16	1
rs1003342	HORMAD2	22	30174033	intron variant	A/G	snv		0.45	1