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 GENOME	Num. diseases
rs121913377	BRAF	0.354	0.840	7	140753335	missense variant	CA/AT;TT	mnv		480
rs397507444	MTHFR	0.405	0.880	1	11794407	missense variant	T/G	snv		306
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
rs1800872	IL19 ; IL10	0.495	0.840	1	206773062	5 prime UTR variant	T/G	snv	0.69	119
rs2275913	IL17A	0.514	0.760	6	52186235	upstream gene variant	G/A	snv	0.28	105
rs104894230	HRAS ; LRRC56	0.564	0.600	11	534288	missense variant	C/A;G;T	snv		73
rs121434568	EGFR	0.568	0.560	7	55191822	missense variant	T/A;G	snv		73
rs1057519847	EGFR	0.570	0.560	7	55191821	missense variant	CT/AG	mnv		72
rs1057519848	EGFR	0.570	0.560	7	55191822	missense variant	TG/GT	mnv		72
rs699947	VEGFA	0.570	0.680	6	43768652	upstream gene variant	A/C;T	snv		67
rs6983267	PCAT1 ; CCAT2 ; CASC8 ; POU5F1B	0.578	0.440	8	127401060	non coding transcript exon variant	G/T	snv	0.37	62
rs4938723	MIR34C ; BTG4 ; MIR34B ; LOC728196	0.574	0.680	11	111511840	intron variant	T/C	snv	0.32	60
rs2070744	NOS3	0.608	0.680	7	150992991	intron variant	C/T	snv	0.70	54
rs243865	MMP2	0.600	0.640	16	55477894	intron variant	C/T	snv	0.19	48
rs1205	CRP	0.602	0.680	1	159712443	3 prime UTR variant	C/T	snv	0.30	46
rs727503094	LRRC56 ; HRAS	0.633	0.440	11	534287	missense variant	GC/AG;AT;TA;TT	mnv		41
rs10889677	IL23R	0.627	0.720	1	67259437	3 prime UTR variant	C/A	snv	0.27	40
rs920778	HOTAIR	0.633	0.480	12	53966448	intron variant	G/A	snv	0.57	36
rs1800624	PBX2 ; AGER	0.658	0.480	6	32184610	upstream gene variant	A/G;T	snv		33
rs10505477	CASC8 ; PCAT1 ; POU5F1B	0.658	0.400	8	127395198	intron variant	A/G	snv	0.40	31
rs121913227	BRAF	0.653	0.320	7	140753336	missense variant	AC/CT;TT	mnv		31
rs145204276	ZBTB37 ; SNORD74 ; SNORD75 ; GAS5 ; SNORD77 ; SNORA103 ; SNORD76	0.658	0.320	1	173868254	splice donor variant	CAAGG/-	delins	8.8E-02	31
rs4759314	HOTAIR	0.649	0.440	12	53968051	non coding transcript exon variant	G/A	snv	0.93	31
rs763110	FASLG	0.653	0.560	1	172658358	upstream gene variant	C/T	snv	0.49	30