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 EXOME	AF GENOME	Num. diseases
rs10484761		0.807	0.080	6	40834522	intergenic variant	T/C	snv		0.31	7
rs6796803		0.925	0.040	3	186746318	intron variant	T/A;C	snv			4
rs1667255		0.925	0.040	18	31607316	intergenic variant	A/C;G;T	snv			3
rs1229984	ADH1B	0.570	0.560	4	99318162	missense variant	T/C;G	snv	0.90		83
rs698	ADH1C ; ADH1B	0.724	0.240	4	99339632	missense variant	T/A;C	snv	0.35		20
rs35385902	ADH1C ; ADH1B	0.807	0.240	4	99347122	missense variant	C/A;T	snv	2.0E-05; 1.1E-03		9
rs1573496	ADH7	0.827	0.160	4	99428512	missense variant	C/G	snv	8.5E-02; 4.9E-04	7.8E-02	7
rs971074	ADH7	0.925	0.040	4	99420704	synonymous variant	C/T	snv	0.12	0.13	3
rs671	ALDH2	0.529	0.840	12	111803962	missense variant	G/A	snv	1.9E-02	5.8E-03	116
rs4855883	APEH	0.851	0.080	3	49673881	upstream gene variant	G/A;C	snv			4
rs1130409	APEX1	0.555	0.720	14	20456995	missense variant	T/A;C;G	snv	4.0E-06; 4.0E-06; 0.42		72
rs985325188	APEX1 ; OSGEP	0.851	0.080	14	20456806	missense variant	A/C	snv			4
rs1183646267	ATM	0.925	0.040	11	108281026	missense variant	A/G	snv			2
rs2240308	AXIN2	0.701	0.360	17	65558473	missense variant	G/A	snv	0.47	0.39	18
rs749710704	BHMT ; DMGDH	0.790	0.160	5	79119289	missense variant	C/G;T	snv	4.0E-06; 4.0E-06		7
rs17655	BIVM-ERCC5 ; ERCC5	0.597	0.560	13	102875652	missense variant	G/C	snv	0.28	0.30	52
rs113488022	BRAF	0.351	0.840	7	140753336	missense variant	A/C;G;T	snv	4.0E-06		490
rs121913377	BRAF	0.354	0.840	7	140753335	missense variant	CA/AT;TT	mnv			480
rs1049253	CASP3	0.851	0.160	4	184627797	3 prime UTR variant	A/G	snv		0.13	4
rs1045485	CASP8	0.637	0.480	2	201284866	missense variant	G/A;C;T	snv	4.0E-06; 9.0E-02		34
rs9344	CCND1	0.653	0.480	11	69648142	splice region variant	G/A	snv	0.45	0.39	34
rs578776	CHRNA3	0.742	0.240	15	78596058	3 prime UTR variant	G/A	snv		0.39	13
rs16969968	CHRNA5	0.653	0.360	15	78590583	missense variant	G/A	snv	0.26	0.24	37
rs401681	CLPTM1L	0.620	0.640	5	1321972	intron variant	C/T	snv		0.48	42
rs4553808	CTLA4	0.672	0.320	2	203866282	upstream gene variant	A/G;T	snv		0.16	28