DisGeNET - a database of gene-disease associations

Source: GWASCAT ×

Results per page

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
rs10774625	ATXN2	0.763	0.320	12	111472415	intron variant	A/G	snv	0.66	7
rs11066301	PTPN11	0.827	0.200	12	112433568	intron variant	A/G	snv	0.30	7
rs2070895	LIPC ; ALDH1A2	0.807	0.120	15	58431740	intron variant	G/A	snv	0.33	7
rs550057	ABO	0.925	0.080	9	133271182	intron variant	T/A;C	snv		7
rs6993770	ZFPM2 ; ZFPM2-AS1	0.925	0.080	8	105569300	intron variant	A/T	snv	0.31	7
rs9376090	HBS1L			6	135090090	intron variant	T/C	snv	0.19	7
rs10758656	RCL1			9	4852599	intron variant	A/G	snv	0.19	6
rs12968719	PTPN2	0.827	0.120	18	12879467	intron variant	G/A	snv	8.5E-02	6
rs13146355	SHROOM3	1.000	0.040	4	76490987	intron variant	G/A	snv	0.33	6
rs1505307	THRB			3	24301839	intron variant	T/C	snv	0.60	6
rs7203560	NPRL3	1.000	0.080	16	134391	intron variant	T/G	snv	2.0E-02	6
rs7385804	TFR2	0.851	0.120	7	100638347	intron variant	C/A	snv	0.65	6
rs77303550	TXNL4B			16	72045758	intron variant	C/T	snv	0.19	6
rs9349205	CCND3			6	41957421	intron variant	G/A;C	snv		6
rs9399137	HBS1L	0.851	0.320	6	135097880	intron variant	T/C	snv	0.20	6
rs9472135	LOC107986598	0.925	0.120	6	43842065	intron variant	T/A;C;G	snv		6
rs11072567	NRG4			15	76006403	intron variant	A/G	snv	0.43	5
rs112233623	CCND3			6	41957260	intron variant	C/T	snv	7.0E-03	5
rs11627485	FNTB ; CHURC1-FNTB ; MAX			14	65020976	intron variant	T/C	snv	0.36	5
rs1175550	SMIM1			1	3774964	intron variant	A/G	snv	0.31	5
rs13339636	FAM234A			16	248589	intron variant	A/G	snv	3.8E-02	5
rs13389219	COBLL1	1.000	0.080	2	164672366	intron variant	C/T	snv	0.47	5
rs1569419	PRDM16			1	3080038	intron variant	T/C	snv	0.73	5
rs3218097	CCND3			6	41937537	intron variant	G/A;T	snv		5
rs4449583	TERT			5	1284020	intron variant	C/T	snv	0.25	5