DisGeNET - a database of gene-disease associations

Source: GWASDB ×

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 EXOME	AF GENOME	Num. diseases
rs3184504	SH2B3 ; ATXN2	0.572	0.600	12	111446804	missense variant	T/A;C;G	snv	0.67		24
rs7903146	TCF7L2	0.554	0.680	10	112998590	intron variant	C/G;T	snv			8
rs1801253	ADRB1	0.683	0.440	10	114045297	missense variant	G/C	snv	0.74	0.69	1
rs17367504	MTHFR	1.000	0.040	1	11802721	intron variant	A/G	snv		0.14	3
rs10788038				10	120117008	intergenic variant	T/C	snv		0.61	1
rs2421016	PLEKHA1	0.925	0.120	10	122407996	intron variant	C/T	snv		0.46	2
rs2292626	PLEKHA1	0.925	0.120	10	122427198	intron variant	C/T	snv		0.46	1
rs11708067	ADCY5	0.882	0.080	3	123346931	intron variant	A/G	snv		0.19	4
rs9883204	ADCY5			3	123377973	intron variant	T/A;C	snv			1
rs13271368				8	125493898	intron variant	C/T	snv		0.18	1
rs1415701	L3MBTL3			6	130024690	intron variant	G/A	snv		0.31	1
rs962554	ADGRG6			6	142413067	intron variant	T/C	snv		0.40	2
rs3918226	NOS3	0.925	0.080	7	150993088	intron variant	C/T	snv		5.7E-02	1
rs670523	RIT1	1.000	0.040	1	155908941	intron variant	A/G	snv		0.48	1
rs900400	LINC02029	0.925	0.080	3	157080986	upstream gene variant	T/C	snv		0.36	1
rs560887	SPC25 ; G6PC2	0.827	0.120	2	168906638	intron variant	T/C	snv	0.79	0.80	7
rs925098	LCORL			4	17918188	intron variant	G/A	snv		0.70	1
rs724577	LCORL			4	17991787	intron variant	A/C	snv		0.71	2
rs6931514	CDKAL1	0.925	0.120	6	20703721	intron variant	A/G	snv		0.27	3
rs11082304	CABLES1			18	23141009	intron variant	G/C;T	snv			2
rs809871	LOC105374986			6	26256298	downstream gene variant	C/G;T	snv			1
rs930811				9	2696555	intergenic variant	G/A	snv		0.47	1
rs798489	GNA12 ; AMZ1			7	2762169	splice donor variant	C/T	snv		0.20	1
rs2960051				18	30276169	intergenic variant	C/T	snv		0.84	1
rs4564656				18	30301067	intron variant	G/A	snv		0.76	1