DisGeNET - a database of gene-disease associations

Source: BEFREE

Variants associated to the Disease: Neoplasm Metastasis ×

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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
rs41274221	MCM7 ; MIR106B ; MIR25 ; MIR93	0.851	0.160	7	100093577	mature miRNA variant	C/T	snv	6.4E-05	4.9E-05	6
rs776880789	PGR ; PGR-AS1	0.925	0.080	11	101128241	missense variant	G/C;T	snv	4.7E-06; 4.7E-06		4
rs761872690	PGR ; PGR-AS1	0.925	0.080	11	101128246	synonymous variant	G/A	snv	2.8E-05		3
rs762471803	YAP1	0.925	0.040	11	102114201	missense variant	T/G	snv			6
rs1284806277	MOK	0.827	0.200	14	102251978	missense variant	A/G	snv		1.4E-05	13
rs6218	LINC02456 ; HELLPAR ; IGF1	0.732	0.440	12	102399855	3 prime UTR variant	A/G	snv		2.1E-02	13
rs1536309	MIR146B	0.851	0.160	10	102435445	upstream gene variant	A/G	snv		0.32	7
rs3774937	NFKB1	0.776	0.280	4	102513096	intron variant	T/C	snv		0.26	4
rs200246209	MMP7			11	102527789	synonymous variant	G/A	snv	8.0E-06	1.4E-05	1
rs147574894	NFKB1 ; LOC105377347	0.925	0.080	4	102600911	missense variant	A/G	snv	9.6E-05	3.9E-04	4
rs148626207	NFKB1 ; LOC105377347			4	102612593	missense variant	T/C	snv	8.0E-06	1.4E-05	1
rs861539	KLC1 ; XRCC3	0.519	0.680	14	103699416	missense variant	G/A	snv	0.29	0.30	103
rs121434592	AKT1	0.595	0.640	14	104780214	missense variant	C/T	snv	4.0E-06		54
rs2494752	AKT1	0.790	0.120	14	104797271	upstream gene variant	A/G	snv		0.85	10
rs4946728	ATG5	1.000	0.120	6	106142488	intron variant	A/C	snv		0.72	3
rs1040411	ATG5	1.000	0.120	6	106150148	intron variant	G/A	snv		0.47	3
rs3804329	ATG5	1.000	0.080	6	106238552	intron variant	A/G	snv		0.15	2
rs3206652	CD47			3	108046402	3 prime UTR variant	T/C	snv		0.27	1
rs9879947	CD47			3	108046545	3 prime UTR variant	G/A	snv		0.45	1
rs3804639	CD47			3	108071988	intron variant	G/T	snv		0.28	1
rs2536	MTOR	0.776	0.240	1	11106656	3 prime UTR variant	T/C	snv		5.8E-02	11
rs1800544	ADRA2A	0.790	0.160	10	111076745	upstream gene variant	G/C	snv		0.59	12
rs684559	CHI3L2			1	111215824	intron variant	G/A	snv		0.27	1
rs899706404	SDHD ; TIMM8B	0.925	0.040	11	112087944	missense variant	A/G	snv			3
rs2230774	ROCK2	0.807	0.240	2	11218994	missense variant	G/C;T	snv	0.49		12