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
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	6
rs2022003	SPTA1			1	158617176	intron variant	A/T	snv		0.28	5
rs3811444	TRIM58			1	247876149	missense variant	C/T	snv	0.31	0.26	12
rs1260326	GCKR	0.645	0.600	2	27508073	missense variant	T/C;G	snv	0.63; 4.0E-06	0.68	55
rs57467915	ABCB6			2	219216694	missense variant	G/A	snv	8.8E-03	9.6E-03	3
rs113635136	TFRC			3	196075973	intron variant	AA/-;A;AAA;AAAA	delins			3
rs1505307	THRB			3	24301839	intron variant	T/C	snv		0.60	6
rs1799945	LOC108783645 ; HFE	0.452	0.760	6	26090951	missense variant	C/G;T	snv	0.11	0.10	16
rs198851	H4C3			6	26104404	downstream gene variant	T/A;C;G	snv			11
rs79220007	HFE			6	26098246	3 prime UTR variant	T/C	snv		3.8E-02	5
rs9349205	CCND3			6	41957421	intron variant	G/A;C	snv			6
rs9487023	CCDC162P			6	109268801	intron variant	A/G	snv		0.40	8
rs706027	BZW2			7	16660352	intron variant	A/T	snv		0.43	4
rs4737010	ANK1			8	41772929	intron variant	G/A	snv		0.32	6
rs6150565	ANK1			8	41655063	3 prime UTR variant	AGAGTCTATACAGC/-;AGAGTCTATACAGCAGAGTCTATACAGC	delins			3
rs10758656	RCL1			9	4852599	intron variant	A/G	snv		0.19	6
rs73660574	GFI1B			9	132985025	intron variant	G/A	snv		5.3E-02	3
rs17476364	HK1			10	69334748	intron variant	T/C	snv		6.4E-02	8
rs11021221				11	95575690	intron variant	T/A;G	snv			4
rs415895	SWAP70			11	9748015	missense variant	C/G	snv	0.62	0.61	6
rs964184	ZPR1	0.716	0.440	11	116778201	3 prime UTR variant	G/C	snv		0.82	35
rs754205	IRS2			13	109759295	intron variant	A/C;G	snv			4
rs8013143	PSMB5			14	23025068	intron variant	A/G	snv		0.43	4
rs12050884	EIF2AK4			15	40014133	intron variant	C/A	snv		0.25	4