DisGeNET - a database of gene-disease associations

Source: GWASDB ×

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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
rs2001945				8	125465736	upstream gene variant	G/A;C;T	snv			6
rs12777	MIR3936HG ; SLC22A4			5	132335969	synonymous variant	C/G	snv	3.1E-02	2.8E-02	3
rs10206899	ALMS1P1			2	73673773	intron variant	T/C;G	snv	0.21; 3.9E-05		2
rs10032549	SHROOM3			4	76476862	intron variant	A/G	snv		0.43	1
rs1011731	DNM3 ; PIGC			1	172377408	intron variant	G/A	snv		0.46	1
rs11078893	LOC101929578			17	39240426	intron variant	T/C	snv		0.67	1
rs12124078	DNAJC16			1	15543404	intron variant	A/G	snv		0.32	1
rs16853722	MECOM			3	169432844	intron variant	T/C	snv		0.11	1
rs17536527				15	45426989	upstream gene variant	G/A;C	snv			1
rs2068888				10	93079885	downstream gene variant	G/A	snv		0.42	1
rs2453580	SLC47A1			17	19535008	non coding transcript exon variant	T/C	snv		0.37	1
rs2834317	LOC105372790			21	33984405	regulatory region variant	G/A	snv		0.11	1
rs2842870	PMF1 ; PMF1-BGLAP			1	156230880	intron variant	T/A;C	snv			1
rs2928148	INO80			15	41109352	intron variant	G/A	snv		0.44	1
rs4418728				10	93079967	downstream gene variant	G/T	snv		0.42	1
rs4795384	CDK12			17	39560518	intron variant	C/G	snv		0.68	1
rs4859682	SHROOM3			4	76489165	intron variant	C/A	snv		0.33	1
rs6440003	ZBTB38			3	141375367	intron variant	G/A	snv		0.54	1
rs6499166	SLC7A6 ; SLC7A6OS			16	68293014	intron variant	G/A	snv		0.79	1
rs6862195	SLC34A1			5	177395511	intron variant	G/T	snv		0.29	1
rs7624084	ZBTB38			3	141374443	intron variant	T/C	snv		0.54	1
rs9916302	FBXL20			17	39343696	intron variant	T/C	snv		0.35	1
rs715	CPS1	1.000	0.040	2	210678331	3 prime UTR variant	T/C	snv		0.28	3
rs10224210	PRKAG2	1.000	0.040	7	151716108	intron variant	T/C	snv		0.21	2
rs12922822	UMOD	1.000	0.040	16	20356323	upstream gene variant	C/A;T	snv			1