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
rs17367504	MTHFR	1.000	0.040	1	11802721	intron variant	A/G	snv		0.14	3
rs12067906				1	192462868	intron variant	T/C	snv		0.12	1
rs13306560	CLCN6 ; MTHFR	1.000	0.040	1	11806126	5 prime UTR variant	C/T	snv		3.7E-02	1
rs1476413	MTHFR	0.790	0.360	1	11792243	intron variant	C/G;T	snv	4.0E-06; 0.26	0.23	1
rs17030613	CAPZA1			1	112648185	intron variant	A/C	snv		0.19	1
rs1801131	MTHFR	0.535	0.840	1	11794419	missense variant	T/G	snv	0.29	0.26	1
rs2004776	AGT			1	230712956	intron variant	C/G;T	snv			1
rs2148582	AGT			1	230714053	intron variant	A/G	snv		0.58	1
rs2478543	AGT			1	230708564	intron variant	T/C	snv		0.58	1
rs2493134	AGT			1	230713613	intron variant	T/C	snv		0.57	1
rs2797221	USH2A			1	215739300	intron variant	T/C	snv		0.88	1
rs301819	RERE	0.882	0.120	1	8441726	intron variant	A/G;T	snv			1
rs3789671	AGT			1	230708054	intron variant	G/A;T	snv			1
rs3818762	MTHFR			1	11790946	intron variant	G/C	snv	0.26; 1.7E-03	0.23	1
rs4121149	LINC01344			1	182149469	intron variant	G/A	snv		0.55	1
rs4846049	C1orf167 ; MTHFR	0.776	0.360	1	11790308	3 prime UTR variant	T/A;G	snv			1
rs5051	AGT	0.882	0.160	1	230714126	intron variant	C/A;G;T	snv			1
rs576853093	MTHFR			1	11790946	intron variant	-/C;CACACACACACAC	ins		6.2E-03	1
rs6687360	AGT			1	230709246	intron variant	C/T	snv		0.45	1
rs699	AGT	0.501	0.800	1	230710048	missense variant	A/G	snv	0.55	0.58	1
rs880315	CASZ1	0.925	0.120	1	10736809	intron variant	T/C	snv		0.32	1
rs943580				1	230701298	upstream gene variant	G/A	snv		0.42	1
rs780093	GCKR	0.763	0.240	2	27519736	intron variant	T/C	snv		0.68	13
rs10197121	RRM2			2	10153562	intron variant	C/T	snv		0.64	1
rs13002573				2	164058698	intron variant	A/G	snv		0.20	1