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 GENOME	Num. diseases
rs10758656	RCL1			9	4852599	intron variant	A/G	snv	0.19	6
rs11021221				11	95575690	intron variant	T/A;G	snv		4
rs113635136	TFRC			3	196075973	intron variant	AA/-;A;AAA;AAAA	delins		3
rs11672387	HOOK2 ; MAST1			19	12870439	intron variant	C/G	snv	0.24	3
rs1175550	SMIM1			1	3774964	intron variant	A/G	snv	0.31	5
rs12050884	EIF2AK4			15	40014133	intron variant	C/A	snv	0.25	4
rs131656	UBE2L3			22	21563161	intron variant	G/A	snv	0.20	3
rs140522	ODF3B	0.851	0.160	22	50532837	upstream gene variant	T/A;C	snv		10
rs1505307	THRB			3	24301839	intron variant	T/C	snv	0.60	6
rs17476364	HK1			10	69334748	intron variant	T/C	snv	6.4E-02	8
rs17534202		1.000	0.120	1	203312047	downstream gene variant	G/C	snv	0.40	6
rs198851	H4C3			6	26104404	downstream gene variant	T/A;C;G	snv		11
rs2022003	SPTA1			1	158617176	intron variant	A/T	snv	0.28	5
rs225245	AP2B1			17	35619088	intron variant	A/G	snv	0.39	3
rs2748425	TMC8 ; TMC6			17	78128765	5 prime UTR variant	G/C	snv	0.26	3
rs2857078	SLC4A1			17	44252803	intron variant	A/C	snv	0.62	4
rs3169166	DNAJA4			15	78270761	intron variant	A/C	snv	0.42	3
rs3785309	LOC107983982 ; HBM			16	162650	intron variant	C/T	snv	0.10	3
rs4737010	ANK1			8	41772929	intron variant	G/A	snv	0.32	6
rs59616136	MYO9B			19	17141231	intron variant	G/A	snv	8.1E-02	4
rs6150565	ANK1			8	41655063	3 prime UTR variant	AGAGTCTATACAGC/-;AGAGTCTATACAGCAGAGTCTATACAGC	delins		3
rs6803	ERAL1 ; MIR451B			17	28860771	3 prime UTR variant	C/T	snv	0.73	3
rs706027	BZW2			7	16660352	intron variant	A/T	snv	0.43	4
rs7194649	HBM ; HBZP1			16	165107	non coding transcript exon variant	C/A	snv	0.18	3
rs73660574	GFI1B			9	132985025	intron variant	G/A	snv	5.3E-02	3