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
rs1175550	SMIM1			1	3774964	intron variant	A/G	snv		0.31	5
rs17534202		1.000	0.120	1	203312047	downstream gene variant	G/C	snv		0.40	7
rs2047007	MFSD2A			1	39962303	intron variant	C/T	snv		0.17	3
rs3123543	ATF3			1	212617344	intron variant	T/A;C	snv			13
rs3811444	TRIM58			1	247876149	missense variant	C/T	snv	0.31	0.26	12
rs4672497				2	62296430	TF binding site variant	C/G;T	snv			5
rs4953318	PRKCE			2	46127912	intron variant	A/C	snv		0.43	5
rs7606173	BCL11A	1.000	0.080	2	60498316	intron variant	G/C;T	snv		0.39	5
rs920112	CDCA7			2	173354407	intron variant	G/A	snv		1.0E-01	5
rs116577908	PLCL2			3	17056907	intron variant	A/G	snv		7.1E-03	4
rs1505307	THRB			3	24301839	intron variant	T/C	snv		0.60	7
rs9290366	MECOM			3	169399217	intron variant	A/G	snv		0.57	3
rs35188965	SLC12A7			5	1104823	intron variant	C/G;T	snv			12
rs112233623	CCND3			6	41957260	intron variant	C/T	snv		7.0E-03	5
rs1799945	LOC108783645 ; HFE	0.452	0.760	6	26090951	missense variant	C/G;T	snv	0.11	0.10	226
rs198851	H4C3			6	26104404	downstream gene variant	T/A;C;G	snv			15
rs2853961				6	31264212	downstream gene variant	G/A	snv		0.38	13
rs4554318	CCND3			6	42044421	intron variant	C/T	snv		0.55	4
rs7775698	HBS1L	1.000	0.080	6	135097497	intron variant	C/T	snv		6.9E-02	14
rs7776054	HBS1L			6	135097778	intron variant	A/G	snv		0.24	13
rs9349205	CCND3			6	41957421	intron variant	G/A;C	snv			7
rs9487023	CCDC162P			6	109268801	intron variant	A/G	snv		0.40	8
rs142529006	ZKSCAN1			7	100022093	intron variant	T/A	snv		6.9E-03	4
rs2075672	TFR2 ; ACTL6B			7	100642673	intron variant	A/G	snv		0.65	8
rs28601761		1.000	0.040	8	125487789	intron variant	C/G	snv		0.37	13