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
rs8105637	TINCR	0.925	0.120	19	5566221	intron variant	A/G	snv		0.56	2
rs1800477	BCL2	0.763	0.480	18	63318540	missense variant	C/T	snv	1.8E-02	4.9E-03	12
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
rs372043866	ERBB2	0.732	0.240	17	39727965	missense variant	G/A;C;T	snv	3.2E-05; 2.4E-05; 1.2E-05		18
rs2302254	NME1-NME2 ; NME1	0.752	0.240	17	51153539	5 prime UTR variant	C/T	snv		0.22	15
rs16949649	NME1 ; NME1-NME2	0.776	0.200	17	51152947	upstream gene variant	T/C	snv		0.39	12
rs3809865	THCAT158 ; ITGB3	0.790	0.240	17	47311220	3 prime UTR variant	T/A;G	snv			11
rs34214448	NME1 ; NME1-NME2	0.851	0.120	17	51154651	intron variant	G/T	snv		0.39	7
rs1292037	VMP1 ; MIR21	0.827	0.200	17	59841547	3 prime UTR variant	T/C	snv		0.18	6
rs10491121	LOC101927369 ; CCL4	0.882	0.120	17	36102943	upstream gene variant	G/A	snv		0.32	5
rs2071504	POLR2A	0.882	0.120	17	7502618	non coding transcript exon variant	C/T	snv	0.18	0.17	4
rs3760468	NME1-NME2 ; NME1	0.882	0.120	17	51153130	upstream gene variant	A/T	snv		0.39	3
rs14304	CCL18	1.000	0.080	17	36071135	3 prime UTR variant	T/C	snv		0.78	2
rs3760469	NME1-NME2 ; NME1	1.000	0.080	17	51153191	upstream gene variant	T/G	snv		0.55	1
rs243865	MMP2	0.600	0.640	16	55477894	intron variant	C/T	snv		0.19	48
rs4784227	CASC16	0.807	0.160	16	52565276	intron variant	C/T	snv		0.20	8
rs12918952	WWOX	0.851	0.120	16	78386878	missense variant	G/A;C;T	snv			7
rs9302752		0.925	0.120	16	50685192	upstream gene variant	T/C	snv		0.68	2
rs7186053	CDH1	1.000	0.080	16	68805390	intron variant	A/G	snv		0.69	1
rs653765	ADAM10	0.763	0.240	15	58749813	upstream gene variant	T/C;G	snv		0.45	10
rs1478604	THBS1	0.807	0.240	15	39581120	5 prime UTR variant	T/C	snv		0.40	9
rs514049	ADAM10	0.827	0.160	15	58750164	intron variant	C/A	snv		0.57	6
rs7166348	IGF1R	1.000	0.080	15	98704566	intron variant	G/A;T	snv		0.21	2