DisGeNET - a database of gene-disease associations

List of associated variants

Thyroid Neoplasm, C0040136

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
rs2227983	EGFR	0.658	0.520	7	55161562	missense variant	G/A;C;T	snv	0.29		31
rs1169803481	EGFR	0.807	0.160	7	55198851	missense variant	A/G	snv	4.0E-06		7
rs1032006770	EGFR	0.882	0.080	7	55160171	missense variant	A/G	snv	4.0E-06	7.0E-06	3
rs1136201	ERBB2	0.645	0.280	17	39723335	missense variant	A/G;T	snv	0.20		34
rs2227869	ERCC5 ; BIVM-ERCC5	0.790	0.240	13	102862735	missense variant	G/A;C	snv	4.3E-02		9
rs1418810723	FN1	0.851	0.080	2	215409981	missense variant	A/T	snv	8.0E-06		9
rs1443434	FOXE1	0.851	0.080	9	97855197	3 prime UTR variant	G/T	snv		0.63	4
rs71369530	FOXE1 ; PTCSC2	0.851	0.080	9	97854419	inframe insertion	GCCGCCGCCGCCGCCGCCGCCGCC/-;GCC;GCCGCC;GCCGCCGCC;GCCGCCGCCGCC;GCCGCCGCCGCCGCC;GCCGCCGCCGCCGCCGCC;GCCGCCGCCGCCGCCGCCGCC;GCCGCCGCCGCCGCCGCCGCCGCCGCC;GCCGCCGCCGCCGCCGCCGCCGCCGCCGCC;GCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCC;GCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCC;GCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCC	delins		0.68	4
rs538912281	FOXE1 ; PTCSC2	0.925	0.080	9	97854657	missense variant	C/A;G;T	snv	2.0E-03		3
rs1031583860	GLYAT	0.882	0.080	11	58709815	missense variant	T/C	snv			3
rs78201625	HABP2	0.851	0.080	10	113577182	missense variant	C/T	snv	2.4E-03	1.8E-03	4
rs7080536	HABP2 ; NRAP	0.683	0.360	10	113588287	missense variant	G/A	snv	2.2E-02	2.4E-02	27
rs763538721	HIF1A-AS3 ; HIF1A	0.807	0.160	14	61740897	missense variant	T/A	snv	4.0E-06		8
rs104894230	HRAS ; LRRC56	0.564	0.600	11	534288	missense variant	C/A;G;T	snv			73
rs121913233	HRAS ; LRRC56	0.627	0.520	11	533874	missense variant	T/A;C;G	snv			37
rs1057519736	IDH2	0.752	0.160	15	90088605	missense variant	C/G	snv			13
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
rs360718	IL18	0.827	0.120	11	112164016	5 prime UTR variant	A/C	snv		0.26	5
rs1946519	IL18	0.851	0.120	11	112164784	intron variant	A/C	snv		0.60	4
rs360717	IL18	0.851	0.080	11	112164002	5 prime UTR variant	G/A	snv		0.25	4
rs3783521	IL1A	0.807	0.200	2	112786000	upstream gene variant	G/A	snv		0.26	8
rs1143623	IL1B	0.677	0.440	2	112838252	upstream gene variant	C/G	snv		0.24	29
rs3917225	IL1R1	0.807	0.160	2	102152842	intron variant	A/G	snv		0.36	6
rs11674595	IL1R2	0.763	0.200	2	101994530	intron variant	T/C	snv		0.22	13