DisGeNET - a database of gene-disease associations

List of associated variants

Malignant Head and Neck Neoplasm, C0278996

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
rs1800896	IL19 ; IL10	0.507	0.800	1	206773552	intron variant	T/C	snv	0.41	113
rs2736100	TERT	0.550	0.880	5	1286401	3 prime UTR variant	C/A	snv	0.52	83
rs1800796	IL6-AS1 ; STEAP1B ; IL6	0.555	0.760	7	22726627	non coding transcript exon variant	G/C	snv	9.9E-02	74
rs1222213359	VEGFA	0.574	0.720	6	43770966	missense variant	G/A	snv		62
rs2243250	IL4	0.570	0.760	5	132673462	upstream gene variant	C/T	snv	0.35	61
rs28362491	LOC105377621 ; NFKB1	0.592	0.720	4	102500998	non coding transcript exon variant	ATTG/-	delins		56
rs187238	IL18	0.602	0.680	11	112164265	intron variant	C/A;G	snv		48
rs1946518	IL18	0.602	0.760	11	112164735	intron variant	T/G	snv	0.60	46
rs401681	CLPTM1L	0.620	0.640	5	1321972	intron variant	C/T	snv	0.48	42
rs920778	HOTAIR	0.633	0.480	12	53966448	intron variant	G/A	snv	0.57	36
rs397516436	TP53	0.641	0.440	17	7674894	stop gained	G/A;C	snv		34
rs4553808	CTLA4	0.672	0.320	2	203866282	upstream gene variant	A/G;T	snv	0.16	28
rs6214	LINC02456 ; HELLPAR ; IGF1	0.672	0.400	12	102399791	3 prime UTR variant	C/T	snv	0.45	26
rs12212067	FOXO3	0.716	0.320	6	108659993	intron variant	T/G	snv	0.14	20
rs786203436	TP53	0.701	0.280	17	7675125	missense variant	A/C;G;T	snv		20
rs10877887	LINC01465 ; MIRLET7I	0.701	0.440	12	62603400	non coding transcript exon variant	T/C	snv	0.42	18
rs578776	CHRNA3	0.742	0.240	15	78596058	3 prime UTR variant	G/A	snv	0.39	13
rs2233406	NFKBIA	0.732	0.440	14	35405593	upstream gene variant	G/A	snv	0.26	12
rs2494938	LRFN2	0.752	0.240	6	40568389	intron variant	G/A	snv	0.51	11
rs4149570	TNFRSF1A	0.752	0.360	12	6342424	upstream gene variant	A/C;G;T	snv		11
rs6898743	GHR	0.776	0.160	5	42602390	intron variant	C/G	snv	0.78	9
rs4767364	NAA25	0.807	0.160	12	112083644	intron variant	G/A	snv	0.45	8
rs4946936	FOXO3	0.790	0.160	6	108682118	3 prime UTR variant	T/A;C	snv		8