DisGeNET - a database of gene-disease associations

List of associated variants

Secondary malignant neoplasm of lymph node, C0686619

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
rs20541	IL13 ; TH2LCRR	0.585	0.720	5	132660272	missense variant	A/G	snv	0.72	0.77	52
rs16893344	CCN4	0.807	0.160	8	133194036	intron variant	C/T	snv		0.29	7
rs8176746	ABO	0.882	0.160	9	133255935	missense variant	G/A;T	snv	4.1E-06; 0.12		12
rs766914563	LOC112268426 ; CXCR4	0.732	0.320	2	136115082	synonymous variant	C/T	snv		7.0E-06	16
rs371074389	LOC112268426 ; CXCR4	0.732	0.320	2	136115226	synonymous variant	C/T	snv	4.0E-06	4.2E-05	16
rs781172058	CXCR4	0.732	0.320	2	136115340	synonymous variant	C/T	snv	4.0E-06		16
rs770327175	CXCR4	0.851	0.120	2	136115878	missense variant	C/A;T	snv	8.0E-06		5
rs895819	MIR23A ; LOC284454 ; MIR27A ; MIR24-2	0.623	0.560	19	13836478	non coding transcript exon variant	T/A;C;G	snv	0.34	0.38	46
rs11671784	MIR24-2 ; LOC284454 ; MIR23A ; MIR27A	0.790	0.240	19	13836482	non coding transcript exon variant	G/A	snv	1.2E-02	1.2E-02	9
rs752021744	PIK3CB	0.689	0.440	3	138759306	missense variant	T/C	snv	1.2E-05		29
rs121913364	BRAF	0.641	0.520	7	140753334	missense variant	T/C;G	snv	4.0E-06		34
rs121913377	BRAF	0.354	0.840	7	140753335	missense variant	CA/AT;TT	mnv			480
rs113488022	BRAF	0.351	0.840	7	140753336	missense variant	A/C;G;T	snv	4.0E-06		490
rs121913227	BRAF	0.653	0.320	7	140753336	missense variant	AC/CT;TT	mnv			31
rs3748093	BRAF	0.925	0.120	7	140800651	intron variant	T/A	snv		1.5E-02	4
rs2607775	XPC ; LSM3	0.807	0.160	3	14178595	5 prime UTR variant	C/G	snv	0.42	0.43	8
rs2294008	PSCA ; JRK	0.672	0.320	8	142680513	5 prime UTR variant	C/T	snv	0.46	0.45	28
rs2976392	JRK ; PSCA	0.724	0.240	8	142681514	3 prime UTR variant	G/A	snv	0.46	0.45	15
rs4705341	CARMN	0.882	0.120	5	149426373	non coding transcript exon variant	A/G	snv		0.13	3
rs2070744	NOS3	0.608	0.680	7	150992991	intron variant	C/T	snv		0.70	54
rs1799983	NOS3	0.430	0.880	7	150999023	missense variant	T/A;G	snv	0.75		246
rs2881766	ESR1	0.882	0.120	6	151797984	intron variant	T/G	snv		0.35	5
rs1455751791	ESR1	0.882	0.120	6	152011735	synonymous variant	C/G	snv	4.0E-06		3
rs10053538	HAVCR2	0.807	0.160	5	157110499	intron variant	C/A;T	snv			7
rs3816527	PTX3 ; VEPH1	0.882	0.160	3	157437525	missense variant	C/A	snv	0.64	0.64	9