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
rs4975616		0.763	0.320	5	1315545	downstream gene variant	G/A	snv		0.51	12
rs1229984	ADH1B	0.570	0.560	4	99318162	missense variant	T/C;G	snv	0.90		83
rs34301344	ARL11	0.689	0.400	13	49630893	stop gained	G/A	snv	9.7E-03	7.9E-03	22
rs1864183	ATG10	0.742	0.240	5	82253397	missense variant	C/T	snv	0.52	0.40	12
rs17655	BIVM-ERCC5 ; ERCC5	0.597	0.560	13	102875652	missense variant	G/C	snv	0.28	0.30	52
rs748148861	CCR6	0.925	0.120	6	167136856	missense variant	G/C	snv	8.0E-06		2
rs5744455	CD14 ; TMCO6	0.882	0.160	5	140633722	upstream gene variant	G/A;T	snv			5
rs1048943	CYP1A1	0.533	0.720	15	74720644	missense variant	T/A;C;G	snv	0.11	5.9E-02	88
rs4646903	CYP1A1	0.630	0.640	15	74719300	downstream gene variant	A/G;T	snv		0.18	36
rs1056836	CYP1B1	0.581	0.680	2	38071060	missense variant	G/C	snv		0.51	58
rs1056827	CYP1B1 ; CYP1B1-AS1	0.683	0.400	2	38075034	missense variant	C/A	snv	0.32	0.35	24
rs3742330	DICER1	0.662	0.640	14	95087025	3 prime UTR variant	A/G	snv		8.7E-02	24
rs13078	DICER1	0.827	0.280	14	95090410	3 prime UTR variant	A/T	snv		0.85	5
rs6877842	DROSHA ; C5orf22	0.807	0.320	5	31532531	intron variant	G/C	snv		0.16	7
rs11615	ERCC1	0.572	0.640	19	45420395	synonymous variant	A/G	snv	0.50	0.55	62
rs759412116	ERCC2	0.581	0.640	19	45352210	missense variant	C/G;T	snv	4.0E-06; 6.0E-05		55
rs50871	ERCC2	0.925	0.120	19	45359257	intron variant	C/A	snv		0.64	2
rs4253211	ERCC6	0.882	0.240	10	49470271	missense variant	C/G;T	snv	7.1E-02; 2.0E-05		3
rs2275913	IL17A	0.514	0.760	6	52186235	upstream gene variant	G/A	snv		0.28	105
rs148704956	IL17A	0.716	0.360	6	52187772	missense variant	A/G	snv	8.0E-06	7.0E-06	19
rs763780	IL17F	0.531	0.720	6	52236941	missense variant	T/C	snv	6.7E-02	6.6E-02	87
rs861539	KLC1 ; XRCC3	0.519	0.680	14	103699416	missense variant	G/A	snv	0.29	0.30	104
rs13181	KLC3 ; ERCC2	0.487	0.760	19	45351661	stop gained	T/A;G	snv	4.0E-06; 0.32		134
rs4725443	KMT2C	0.925	0.120	7	152170176	intron variant	T/C	snv		9.3E-02	2
rs6464211	KMT2C	0.925	0.160	7	152176768	synonymous variant	C/T	snv	0.24	0.34	2