DisGeNET - a database of gene-disease associations

Source: GWASCAT ×

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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
rs2857078	SLC4A1			17	44252803	intron variant	A/C	snv		0.62	4
rs3169166	DNAJA4			15	78270761	intron variant	A/C	snv		0.42	3
rs754205	IRS2			13	109759295	intron variant	A/C;G	snv			4
rs10758656	RCL1			9	4852599	intron variant	A/G	snv		0.19	6
rs1175550	SMIM1			1	3774964	intron variant	A/G	snv		0.31	5
rs225245	AP2B1			17	35619088	intron variant	A/G	snv		0.39	3
rs8013143	PSMB5			14	23025068	intron variant	A/G	snv		0.43	4
rs9487023	CCDC162P			6	109268801	intron variant	A/G	snv		0.40	8
rs2022003	SPTA1			1	158617176	intron variant	A/T	snv		0.28	5
rs706027	BZW2			7	16660352	intron variant	A/T	snv		0.43	4
rs113635136	TFRC			3	196075973	intron variant	AA/-;A;AAA;AAAA	delins			3
rs6150565	ANK1			8	41655063	3 prime UTR variant	AGAGTCTATACAGC/-;AGAGTCTATACAGCAGAGTCTATACAGC	delins			3
rs12050884	EIF2AK4			15	40014133	intron variant	C/A	snv		0.25	4
rs7194649	HBM ; HBZP1			16	165107	non coding transcript exon variant	C/A	snv		0.18	3
rs11672387	HOOK2 ; MAST1			19	12870439	intron variant	C/G	snv		0.24	3
rs415895	SWAP70			11	9748015	missense variant	C/G	snv	0.62	0.61	6
rs1799945	LOC108783645 ; HFE	0.452	0.760	6	26090951	missense variant	C/G;T	snv	0.11	0.10	16
rs3785309	LOC107983982 ; HBM			16	162650	intron variant	C/T	snv		0.10	3
rs3811444	TRIM58			1	247876149	missense variant	C/T	snv	0.31	0.26	12
rs6803	ERAL1 ; MIR451B			17	28860771	3 prime UTR variant	C/T	snv		0.73	3
rs74035509	ZFPM1			16	88500925	intron variant	C/T	snv		0.10	5
rs7412	APOE	0.641	0.640	19	44908822	missense variant	C/T	snv	6.2E-02	7.9E-02	20
rs8067342	NATD1			17	21253548	upstream gene variant	C/T	snv		0.25	3
rs131656	UBE2L3			22	21563161	intron variant	G/A	snv		0.20	3
rs4737010	ANK1			8	41772929	intron variant	G/A	snv		0.32	6