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
rs1136410	PARP1	0.559	0.760	1	226367601	missense variant	A/G	snv	0.21	0.15	70
rs1143630	IL1B	0.827	0.160	2	112834078	intron variant	T/A;G	snv			5
rs1143633	IL1B	0.752	0.280	2	112832890	intron variant	C/G;T	snv			11
rs1143643	IL1B	0.790	0.320	2	112830725	intron variant	C/T	snv		0.29	10
rs11539752	LOC107984667 ; GZMB	0.882	0.120	14	24632383	missense variant	G/C	snv	0.21	0.26	6
rs11581557	TRIT1	1.000	0.080	1	39862786	intron variant	A/C;T	snv			1
rs11600655	PLAAT3	0.925	0.120	11	63606853	intron variant	G/C	snv		0.27	2
rs11615	ERCC1	0.572	0.640	19	45420395	synonymous variant	A/G	snv	0.50	0.55	62
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
rs116909374		0.776	0.120	14	36269155	regulatory region variant	C/T	snv		2.3E-02	11
rs11730582	SPP1	0.807	0.240	4	87975269	non coding transcript exon variant	T/C	snv		0.37	10
rs1187825488	LINC00960 ; MIR4273 ; ZNF717	1.000	0.080	3	75737670	frameshift variant	TT/-	del		7.9E-04	1
rs11886868	BCL11A	0.752	0.280	2	60493111	intron variant	C/T	snv		0.65	12
rs11889031	LOC101927840	1.000	0.080	2	203934671	upstream gene variant	C/T	snv		0.15	1
rs1190271	POPDC3	1.000	0.080	6	105176946	intron variant	G/A;C	snv			1
rs1205	CRP	0.602	0.680	1	159712443	3 prime UTR variant	C/T	snv		0.30	46
rs12075	CADM3-AS1 ; ACKR1	0.724	0.240	1	159205564	missense variant	G/A	snv	0.51	0.66	22
rs121434568	EGFR	0.568	0.560	7	55191822	missense variant	T/A;G	snv			73
rs121434569	EGFR-AS1 ; EGFR	0.581	0.520	7	55181378	missense variant	C/T	snv	2.8E-05	5.6E-05	70
rs121913227	BRAF	0.653	0.320	7	140753336	missense variant	AC/CT;TT	mnv			31
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
rs121913529	KRAS	0.492	0.680	12	25245350	missense variant	C/A;G;T	snv	4.0E-06		144
rs1219648	FGFR2	0.716	0.320	10	121586676	intron variant	A/G;T	snv			17
rs1256054	ESR2	0.882	0.120	14	64249595	synonymous variant	G/C	snv	2.8E-03	9.6E-04	3