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
rs531564	LINC00599 ; MIR124-1	0.672	0.480	8	9903189	non coding transcript exon variant	G/C	snv		0.14	27
rs7166348	IGF1R	1.000	0.080	15	98704566	intron variant	G/A;T	snv		0.21	2
rs965513	PTCSC2	0.742	0.200	9	97793827	intron variant	A/G;T	snv			15
rs1052133	OGG1 ; CAMK1	0.476	0.800	3	9757089	missense variant	C/G	snv	0.27	0.22	147
rs6990097	TNKS	0.882	0.120	8	9555347	non coding transcript exon variant	T/C	snv		0.28	3
rs13293512		0.763	0.360	9	94167461	intron variant	T/C	snv		0.24	11
rs778036161	RUNX1T1	0.776	0.080	8	92017363	missense variant	T/C	snv	8.0E-06		9
rs778962647	RUNX1T1	1.000	0.080	8	91986282	missense variant	G/T	snv	4.0E-06		1
rs7963551	RAD52	0.807	0.160	12	912349	3 prime UTR variant	T/G	snv		0.13	7
rs42490	RIPK2	0.882	0.160	8	89766285	intron variant	G/A	snv		0.60	5
rs2231142	ABCG2	0.583	0.680	4	88131171	missense variant	G/C;T	snv	4.0E-06; 0.12		56
rs2622621	ABCG2	0.851	0.240	4	88109768	intron variant	C/A;G	snv			6
rs11730582	SPP1	0.807	0.240	4	87975269	non coding transcript exon variant	T/C	snv		0.37	10
rs4693608	HPSE	0.827	0.200	4	83320204	intron variant	G/A;C	snv			6
rs11099592	HPSE	0.851	0.160	4	83309466	missense variant	T/C	snv	0.78	0.80	5
rs17530068	LOC105377871	0.882	0.120	6	81483392	intergenic variant	T/C	snv		0.19	3
rs2288496	TSHR ; LOC101928462	0.925	0.120	14	81145770	3 prime UTR variant	T/C	snv		0.39	2
rs12918952	WWOX	0.851	0.120	16	78386878	missense variant	G/A;C;T	snv			7
rs13042395	SLC52A3	0.752	0.160	20	773867	intron variant	C/T	snv		5.9E-02	13
rs1042522	TP53	0.426	0.800	17	7676154	missense variant	G/C;T	snv	0.67		242
rs1131691014	TP53	0.439	0.800	17	7676154	frameshift variant	-/C	ins			214
rs878854066	TP53	0.439	0.800	17	7676153	missense variant	GG/AC	mnv			213
rs761797378	MIR4273 ; LINC00960 ; ZNF717	1.000	0.080	3	75737671	missense variant	T/A	snv	2.0E-05	2.0E-05	1
rs1187825488	LINC00960 ; MIR4273 ; ZNF717	1.000	0.080	3	75737670	frameshift variant	TT/-	del		7.9E-04	1
rs2071504	POLR2A	0.882	0.120	17	7502618	non coding transcript exon variant	C/T	snv	0.18	0.17	4