DisGeNET - a database of gene-disease associations

Source: INFERRED ×

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
rs10069690	TERT	0.595	0.560	5	1279675	intron variant	C/T	snv		0.36	19
rs78378222	TP53	0.662	0.360	17	7668434	3 prime UTR variant	T/G	snv		8.3E-03	17
rs35850753	TP53	0.807	0.080	17	7675353	5 prime UTR variant	C/T	snv		1.3E-02	6
rs634537	CDKN2B-AS1	0.851	0.080	9	22032153	intron variant	T/G	snv		0.28	6
rs72709458	TERT	0.882	0.040	5	1283640	intron variant	C/A;T	snv			5
rs10852606	HEATR3	0.882	0.040	16	50094961	intron variant	T/A;C	snv			4
rs11233250	MIR4300HG	0.882	0.040	11	82685972	intron variant	C/T	snv		0.11	4
rs11979158	EGFR	0.882	0.040	7	55091656	intron variant	A/G;T	snv		0.20	4
rs12752552	RAVER2	0.882	0.040	1	64763616	intron variant	T/C	snv		0.13	4
rs2235573	SLC16A8	0.882	0.040	22	38081923	synonymous variant	G/A	snv	0.47	0.46	4
rs2297440	RTEL1 ; RTEL1-TNFRSF6B	0.763	0.080	20	63680946	intron variant	T/C	snv		0.81	4
rs2562152	RHBDF1	0.882	0.040	16	73898	intron variant	A/T	snv		0.67	4
rs3851634	POLR3B	0.882	0.040	12	106419124	intron variant	T/C	snv		0.22	4
rs55705857	CCDC26	0.732	0.080	8	129633446	intron variant	A/G	snv		3.9E-02	4
rs59060240	EGFR	0.882	0.040	7	55080369	intron variant	AA/-;A;AAA;AAAA;AAAAAAAAAAA	delins			4
rs723527	EGFR	0.882	0.040	7	55067179	intron variant	A/G	snv		0.53	4
rs75061358		0.882	0.040	7	54848587	intergenic variant	T/C;G	snv			4
rs6062302	RTEL1 ; RTEL1-TNFRSF6B	0.882	0.040	20	63689615	synonymous variant	T/C	snv	0.74	0.81	3
rs145929329	CDKN2B-AS1	0.882	0.040	9	22066213	intron variant	TTTT/-;T;TT;TTT;TTTTT;TTTTTT;TTTTTTTTTT	delins		0.58	2
rs1558650888	DNMT3A	0.925	0.040	2	25234308	missense variant	G/A	snv			2
rs7732320	SSBP2	0.925	0.040	5	81423306	intron variant	C/T	snv		0.22	2