DisGeNET - a database of gene-disease associations

List of associated variants

Carcinoma of larynx, C0595989

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
rs10088262	LOC105375739	0.925	0.160	8	123753462	intergenic variant	A/G	snv		0.56	2
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
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
rs11191865	STN1	0.925	0.160	10	103913084	intron variant	G/A	snv		0.44	3
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
rs1216411295	IL2RA	1.000	0.120	10	6025837	missense variant	A/T	snv	4.0E-06		1
rs1229984	ADH1B	0.570	0.560	4	99318162	missense variant	T/C;G	snv	0.90		83
rs12765878	STN1	0.925	0.160	10	103909864	intron variant	T/A;C	snv			2
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
rs1321311		0.742	0.160	6	36655123	regulatory region variant	C/A	snv		0.28	15
rs1378286181	TCF3	1.000	0.120	19	1632076	missense variant	C/G	snv		7.0E-06	1
rs142863665	CUX1	1.000	0.120	7	102111708	missense variant	G/A	snv	3.2E-05	1.3E-04	1
rs148704956	IL17A	0.716	0.360	6	52187772	missense variant	A/G	snv	8.0E-06	7.0E-06	19
rs150766139	NTHL1 ; TSC2	0.742	0.320	16	2046238	stop gained	G/A	snv	1.4E-03	1.4E-03	13
rs1665650	HSPA12A	0.752	0.160	10	116727589	intron variant	T/C	snv		0.69	12
rs17655	BIVM-ERCC5 ; ERCC5	0.597	0.560	13	102875652	missense variant	G/C	snv	0.28	0.30	52
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
rs1805794	NBN	0.605	0.600	8	89978251	missense variant	C/G	snv	0.35	0.31	41
rs1864183	ATG10	0.742	0.240	5	82253397	missense variant	C/T	snv	0.52	0.40	12