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
rs2022003	SPTA1			1	158617176	intron variant	A/T	snv		0.28	5
rs2857078	SLC4A1			17	44252803	intron variant	A/C	snv		0.62	5
rs4434553	TFR2	1.000	0.040	7	100642568	intron variant	A/G	snv		0.40	5
rs532398216				16	182398	downstream gene variant	TGAG/-	delins		2.0E-03	5
rs79220007	HFE			6	26098246	3 prime UTR variant	T/C	snv		3.8E-02	5
rs1434282	LINC01221			1	199041592	non coding transcript exon variant	C/T	snv		0.76	6
rs415895	SWAP70			11	9748015	missense variant	C/G	snv	0.62	0.61	6
rs4737010	ANK1			8	41772929	intron variant	G/A	snv		0.32	6
rs592423				6	139519556	intron variant	A/C	snv		0.50	6
rs8176747	ABO			9	133255928	missense variant	C/A;G	snv	4.1E-06; 0.12		6
rs10758656	RCL1			9	4852599	intron variant	A/G	snv		0.19	7
rs1505307	THRB			3	24301839	intron variant	T/C	snv		0.60	7
rs737092				20	57415349	regulatory region variant	T/C	snv		0.58	7
rs8887	PLIN4 ; HDGFL2	1.000	0.080	19	4502189	3 prime UTR variant	T/C;G	snv	0.51; 1.8E-05		7
rs9349205	CCND3			6	41957421	intron variant	G/A;C	snv			7
rs4766578	ATXN2	0.851	0.200	12	111466567	intron variant	T/A	snv		0.66	8
rs9487023	CCDC162P			6	109268801	intron variant	A/G	snv		0.40	8
rs218265				4	54542832	intergenic variant	T/C	snv		0.21	10
rs140522	ODF3B	0.851	0.160	22	50532837	upstream gene variant	T/A;C	snv			11
rs3811444	TRIM58			1	247876149	missense variant	C/T	snv	0.31	0.26	12
rs198851	H4C3			6	26104404	downstream gene variant	T/A;C;G	snv			15
rs964184	ZPR1	0.716	0.440	11	116778201	3 prime UTR variant	G/C	snv		0.82	47
rs3184504	SH2B3 ; ATXN2	0.572	0.600	12	111446804	missense variant	T/A;C;G	snv	0.67		92
rs1799945	LOC108783645 ; HFE	0.452	0.760	6	26090951	missense variant	C/G;T	snv	0.11	0.10	226