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 EXOME	AF GENOME	Num. diseases
rs1169313	C12orf43			12	121004867	intron variant	T/A;C	snv			1
rs1182933	C12orf43	1.000	0.120	12	121016819	upstream gene variant	C/T	snv		0.26	2
rs2259883	OASL			12	121024336	intron variant	G/A;C	snv			1
rs3213545	OASL			12	121033534	synonymous variant	G/A	snv	0.32	0.26	1
rs2891677	NSMCE2			8	125331966	intron variant	C/T	snv		0.44	1
rs28601761		1.000	0.040	8	125487789	intron variant	C/G	snv		0.37	13
rs8180991				8	125488108	intron variant	C/G	snv		0.19	2
rs1119582				5	125907327	intron variant	T/C	snv			1
rs11220463	ST3GAL4			11	126378316	intron variant	A/T	snv		0.12	3
rs1490384				6	126530014	intron variant	C/G;T	snv			3
rs1936797				6	127111512	intron variant	A/G	snv		0.33	3
rs2387326				10	128135192	intergenic variant	C/T	snv		0.24	1
rs2847281	PTPN2	1.000	0.040	18	12821594	intron variant	A/G	snv		0.32	3
rs2852151	PTPN2			18	12841177	intron variant	G/A	snv		0.32	1
rs56150366	PTPN2			18	12844051	intron variant	T/C	snv		0.40	1
rs9385532	L3MBTL3			6	130050082	intron variant	T/C	snv		0.53	1
rs7746589	L3MBTL3			6	130050695	intron variant	G/A	snv		0.53	1
rs9375813	LOC105378005			6	131436107	intergenic variant	C/A	snv		0.14	1
rs4705952				5	132503926	intron variant	G/A	snv		0.62	1
rs687621	ABO	0.851	0.240	9	133261662	intron variant	G/A;C	snv			11
rs687289	ABO	1.000	0.120	9	133261703	intron variant	A/G	snv			8
rs657152	ABO	0.882	0.200	9	133263862	intron variant	A/C;T	snv			6
rs514659	ABO	0.882	0.120	9	133266790	intron variant	C/A;T	snv			2
rs644234	ABO			9	133266804	intron variant	G/T	snv			1
rs643434	ABO			9	133266942	intron variant	A/G;T	snv			3