DisGeNET - a database of gene-disease associations

List of associated variants

Neoplasms, C0027651

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
rs5030821	VHL	0.827	0.280	3	10149823	missense variant	G/A;C;T	snv	4.0E-06		8
rs16405	BTRC	0.882	0.120	10	101553963	3 prime UTR variant	AACAGTGGA/-	del		0.31	4
rs675436	TM2D3			15	101652337	synonymous variant	T/G	snv	0.35	0.38	1
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
rs12769316	NFKB2	0.925	0.160	10	102392994	upstream gene variant	G/A	snv		0.13	3
rs2946834	LINC02456 ; HELLPAR	0.807	0.200	12	102394036	non coding transcript exon variant	A/G	snv		0.63	7
rs1536309	MIR146B	0.851	0.160	10	102435445	upstream gene variant	A/G	snv		0.32	7
rs12423791	IGF1	0.925	0.040	12	102465050	intron variant	G/C	snv		2.8E-02	5
rs5742612	LOC105369944 ; IGF1	0.752	0.440	12	102481086	intron variant	A/G	snv		5.6E-02	11
rs35767	IGF1 ; LOC105369944	0.763	0.360	12	102481791	upstream gene variant	A/C;G;T	snv			13
rs7965399	LOC105369944	0.851	0.120	12	102497908	regulatory region variant	T/A;C	snv			5
rs11568818	MMP7	0.763	0.280	11	102530930	upstream gene variant	T/A;C	snv			15
rs202196813	NFKB1			4	102596179	missense variant	G/A;T	snv	2.1E-04; 8.0E-06		1
rs4648068	NFKB1	0.790	0.240	4	102597148	intron variant	A/G	snv		0.31	9
rs147574894	NFKB1 ; LOC105377347	0.925	0.080	4	102600911	missense variant	A/G	snv	9.6E-05	3.9E-04	4
rs765029684	MMP8			11	102718438	missense variant	T/A;C;G	snv	4.0E-06; 4.0E-06		1
rs475007	MMP1 ; WTAPP1			11	102798581	intron variant	A/G;T	snv			1
rs1799969	ICAM1	0.637	0.560	19	10284116	missense variant	G/A	snv	0.11	9.3E-02	38
rs5498	ICAM4 ; ICAM1	0.531	0.760	19	10285007	missense variant	A/G	snv	0.44	0.37	99
rs1047768	ERCC5 ; BIVM-ERCC5	0.695	0.320	13	102852167	synonymous variant	T/C	snv	0.52	0.59	20
rs17655	BIVM-ERCC5 ; ERCC5	0.597	0.560	13	102875652	missense variant	G/C	snv	0.28	0.30	52
rs873601	BIVM-ERCC5 ; ERCC5	0.677	0.360	13	102875987	3 prime UTR variant	G/A	snv		0.59	25
rs760045277	INA	0.925	0.040	10	103277606	missense variant	G/A	snv			3
rs861539	KLC1 ; XRCC3	0.519	0.680	14	103699416	missense variant	G/A	snv	0.29	0.30	104