DisGeNET - a database of gene-disease associations

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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
rs1861072	UNC80			2	209986910	intron variant	T/C	snv		0.34	2
rs8007087	UNC79			14	93452539	intron variant	C/G;T	snv			1
rs11071027	UNC13C			15	54072564	intron variant	A/C;T	snv			1
rs365132	UIMC1			5	176951573	synonymous variant	G/T	snv	0.51	0.58	2
rs13233916	TTC26			7	139189670	3 prime UTR variant	C/G	snv		7.1E-02	1
rs1329767	TRPM3			9	71183455	intron variant	C/A	snv		0.35	1
rs10895140	TRPC6			11	101565990	intron variant	A/G	snv		0.62	1
rs10895141	TRPC6			11	101566010	intron variant	A/C;T	snv		0.62	1
rs4929923	TRIM66			11	8617653	3 prime UTR variant	T/C	snv		0.59	3
rs4929947	TRIM66			11	8618447	intron variant	G/C	snv		0.57	1
rs7727787	TRIM41			5	181226039	non coding transcript exon variant	G/A;C	snv			1
rs16860328	TRA2B			3	185917897	intron variant	A/G	snv		0.35	1
rs16860342	TRA2B			3	185935159	non coding transcript exon variant	C/T	snv		0.35	1
rs112927956	TNRC6A			16	24712680	intron variant	C/T	snv		2.8E-02	1
rs7514705	TNNI3K ; LRRC53 ; FPGT-TNNI3K			1	74541036	intron variant	T/C	snv		0.41	1
rs57314245	TMEM245			9	109051552	intron variant	G/A	snv		0.29	1
rs11668344	TMEM150B	0.925	0.120	19	55322296	intron variant	A/G	snv		0.35	4
rs1984870	THRB-AS1			3	24673644	intron variant	G/T	snv		0.55	1
rs6770162	THRB-AS1			3	24669522	intron variant	G/A	snv		0.56	1
rs7652234	THRB			3	24148968	intron variant	C/G	snv		0.11	1
rs2679894	TGFBRAP1			2	105254322	upstream gene variant	A/G	snv		0.43	2
rs2206271	TFAP2B			6	50818295	upstream gene variant	T/A	snv		0.32	3
rs143875052	TET2 ; TET2-AS1			4	105229398	intron variant	C/T	snv		0.11	1
rs12607857	TCF4			18	55546095	intron variant	G/A	snv		6.9E-02	1
rs34768269	TBC1D16			17	79978952	intron variant	T/C	snv		0.16	1