DisGeNET - a database of gene-disease associations

List of associated variants

Neoplasm Metastasis, C0027627

Source: ALL

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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
rs3740530	HABP2	1.000	0.080	10	113574365	synonymous variant	C/T	snv	0.63	0.55	2
rs3804329	ATG5	1.000	0.080	6	106238552	intron variant	A/G	snv		0.15	2
rs3923594	MCAM	1.000	0.120	11	119317205	intron variant	C/A;T	snv		7.1E-06	2
rs4461062	NUP93	1.000	0.080	16	56830706	intron variant	C/T	snv	0.48	0.48	2
rs62054619	GAS8-AS1 ; GAS8	1.000	0.080	16	90029890	non coding transcript exon variant	G/A	snv		0.14	2
rs6475526		1.000	0.080	9	21242162	upstream gene variant	C/T	snv		0.33	2
rs6510502	COX6B1	1.000	0.080	19	35647577	upstream gene variant	A/C;G	snv			2
rs723526	EGFR	1.000		7	55067126	intron variant	A/G	snv		0.86	2
rs9397080	ESR1	1.000	0.040	6	152059380	intron variant	C/T	snv		0.22	2
rs1049074086	CTSD	0.925	0.120	11	1759567	missense variant	A/G	snv		7.0E-06	9
rs11902171	ITGAV	0.925	0.080	2	186678500	3 prime UTR variant	G/C	snv		0.22	6
rs200863613	CDKN2A	0.925	0.080	9	21971061	missense variant	C/A;T	snv	8.5E-05	3.7E-04	6
rs2269772	ITGA3	0.925	0.080	17	50072022	synonymous variant	C/T	snv	0.17	0.19	6
rs60745952	LOC107986195 ; LOC105377481	0.925	0.080	4	148827842	intron variant	T/C	snv		0.13	6
rs730882002	TP53	0.925	0.040	17	7674956	missense variant	T/C	snv			6
rs762471803	YAP1	0.925	0.040	11	102114201	missense variant	T/G	snv			6
rs1490204625	RASA1	0.925	0.160	5	87268486	missense variant	G/A	snv			5
rs17632542	KLK3	0.925	0.080	19	50858501	missense variant	T/C	snv	5.5E-02	4.9E-02	5
rs759435862	KIDINS220	0.925	0.080	2	8776852	missense variant	C/A;T	snv	2.0E-05		5
rs1056123575	ADAMTS1	0.925	0.080	21	26844557	missense variant	G/A	snv	4.2E-06	7.0E-06	4
rs1172398253	CCN1	0.925	0.080	1	85582045	missense variant	C/T	snv	4.0E-06		4
rs1284410244	VEGFA	0.925	0.040	6	43778482	missense variant	A/G	snv		7.0E-06	4
rs1364963022	ESR1	0.925	0.080	6	151944233	missense variant	G/C	snv	4.0E-06		4
rs147574894	NFKB1 ; LOC105377347	0.925	0.080	4	102600911	missense variant	A/G	snv	9.6E-05	3.9E-04	4
rs200282497	ESR1	0.925	0.080	6	151944239	missense variant	G/C	snv	3.6E-05	3.5E-05	4