DisGeNET - a database of gene-disease associations

List of associated variants

Malignant neoplasm of larynx, C0007107

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
rs1042522	TP53	0.426	0.800	17	7676154	missense variant	G/C;T	snv	0.67		242
rs1048943	CYP1A1	0.533	0.720	15	74720644	missense variant	T/A;C;G	snv	0.11	5.9E-02	88
rs1052133	OGG1 ; CAMK1	0.476	0.800	3	9757089	missense variant	C/G	snv	0.27	0.22	147
rs1056827	CYP1B1 ; CYP1B1-AS1	0.683	0.400	2	38075034	missense variant	C/A	snv	0.32	0.35	24
rs1056836	CYP1B1	0.581	0.680	2	38071060	missense variant	G/C	snv		0.51	58
rs1131691014	TP53	0.439	0.800	17	7676154	frameshift variant	-/C	ins			214
rs115160714	TOPBP1	0.807	0.200	3	133601021	3 prime UTR variant	G/A	snv		5.8E-03	9
rs11615	ERCC1	0.572	0.640	19	45420395	synonymous variant	A/G	snv	0.50	0.55	62
rs1229984	ADH1B	0.570	0.560	4	99318162	missense variant	T/C;G	snv	0.90		83
rs13078	DICER1	0.827	0.280	14	95090410	3 prime UTR variant	A/T	snv		0.85	5
rs13181	KLC3 ; ERCC2	0.487	0.760	19	45351661	stop gained	T/A;G	snv	4.0E-06; 0.32		134
rs148704956	IL17A	0.716	0.360	6	52187772	missense variant	A/G	snv	8.0E-06	7.0E-06	19
rs17655	BIVM-ERCC5 ; ERCC5	0.597	0.560	13	102875652	missense variant	G/C	snv	0.28	0.30	52
rs1799778	XRCC1	1.000	0.120	19	43554989	intron variant	G/T	snv		0.31	1
rs1799782	XRCC1	0.474	0.800	19	43553422	missense variant	G/A	snv	9.5E-02	7.0E-02	151
rs1799983	NOS3	0.430	0.880	7	150999023	missense variant	T/A;G	snv	0.75		246
rs1816158	MIR100HG	0.925	0.200	11	122155752	intron variant	C/A;T	snv			3
rs1864183	ATG10	0.742	0.240	5	82253397	missense variant	C/T	snv	0.52	0.40	12
rs2230600	PTPN13	0.827	0.160	4	86769845	missense variant	A/G	snv	0.18	0.14	5
rs2275913	IL17A	0.514	0.760	6	52186235	upstream gene variant	G/A	snv		0.28	105
rs25487	XRCC1	0.441	0.800	19	43551574	missense variant	T/C	snv	0.68	0.71	205
rs25489	XRCC1	0.550	0.720	19	43552260	missense variant	C/G;T	snv	8.5E-06; 7.1E-02		78
rs28366003	MT2A	0.763	0.240	16	56608579	upstream gene variant	A/C;G	snv		4.6E-02	10
rs28903090	RAD50	0.925	0.120	5	132587981	missense variant	G/T	snv	1.2E-03	1.4E-03	2
rs3213282	XRCC1	0.882	0.160	19	43568728	intron variant	G/C	snv		0.57	3