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
rs17381664	ZZZ3	1.000	0.080	1	77582646	intron variant	T/C	snv		0.29	3
rs10408163	ZC3H4			19	47093845	non coding transcript exon variant	T/C	snv		0.52	6
rs2303108	ZC3H4			19	47086638	intron variant	T/C	snv		0.63	3
rs3810291	ZC3H4			19	47065746	3 prime UTR variant	G/A	snv		0.50	9
rs2395607	UHRF1BP1			6	34805950	intron variant	C/T	snv		0.22	2
rs9469913	UHRF1BP1			6	34859308	missense variant	A/G;T	snv	4.0E-06; 0.16		2
rs4929923	TRIM66			11	8617653	3 prime UTR variant	T/C	snv		0.59	3
rs7113874	TRIM66			11	8666469	intron variant	C/T	snv		0.42	2
rs7864204	TMEM252-DT			9	68614263	intron variant	A/G	snv		0.61	2
rs6870983	TMEM161B-AS1			5	88401716	intron variant	C/T	snv		0.29	3
rs987237	TFAP2B	0.925	0.120	6	50835337	intron variant	A/G	snv		0.17	10
rs2033529	TDRG1			6	40380914	intron variant	A/C;G	snv			4
rs7903146	TCF7L2	0.554	0.680	10	112998590	intron variant	C/G;T	snv			93
rs984222	TBX15			1	118961220	intron variant	C/A;G	snv			3
rs13107325	SLC39A8	0.776	0.520	4	102267552	missense variant	C/A;T	snv	4.0E-06; 4.5E-02		34
rs4788102	SH2B1	0.851	0.160	16	28862077	intron variant	G/A	snv		0.34	6
rs2650492	SBK1			16	28322090	3 prime UTR variant	G/A	snv		0.20	5
rs2035935	RASA2			3	141587171	intron variant	A/G;T	snv			2
rs3732869	RASA2			3	141576936	intron variant	T/A	snv		0.13	2
rs10510554	RARB			3	25058285	intron variant	T/C	snv		0.53	2
rs4858697	RARB			3	25075091	intron variant	A/G	snv		0.53	2
rs6804842	RARB			3	25064946	intron variant	A/G	snv		0.53	3
rs7619139	RARB			3	25068924	intron variant	T/A	snv		0.54	3
rs13191362	PRKN			6	162612318	intron variant	A/G	snv		8.7E-02	3
rs2112347	POC5 ; LOC441087	0.925	0.120	5	75719417	upstream gene variant	T/G	snv		0.42	10