DisGeNET - a database of gene-disease associations

List of associated variants

Malignant neoplasm of thyroid, C0007115

Source: BEFREE ×

Results per page

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
rs145475805	TG	0.882	0.080	8	132887509	missense variant	A/G	snv	8.8E-05	3.3E-04	4
rs768891111	XRCC3 ; KLC1	0.851	0.080	14	103699474	stop gained	C/A;G;T	snv	4.0E-06; 4.0E-06		4
rs786203472	CHEK2	0.827	0.120	22	28719414	start lost	T/C	snv			5
rs863224748	CHEK2	0.827	0.120	22	28734721	start lost	T/C	snv			5
rs360718	IL18	0.827	0.120	11	112164016	5 prime UTR variant	A/C	snv		0.26	5
rs4833837	IL21	0.827	0.200	4	122615808	synonymous variant	G/A	snv	0.74	0.77	5
rs7850258	PTCSC2	0.827	0.200	9	97786731	intron variant	A/G	snv		0.72	5
rs1064795638	BAP1	0.851	0.080	3	52403251	stop gained	G/A	snv			6
rs3917225	IL1R1	0.807	0.160	2	102152842	intron variant	A/G	snv		0.36	6
rs768827923	PIK3CD	0.851	0.080	1	9721816	missense variant	T/G	snv			6
rs776935407	SGSM3	0.851	0.080	22	40409261	missense variant	T/A	snv	4.1E-06		6
rs6013897		0.790	0.200	20	54125940	regulatory region variant	T/A	snv		0.23	7
rs1169803481	EGFR	0.807	0.160	7	55198851	missense variant	A/G	snv	4.0E-06		7
rs1126667	ALOX12 ; ALOX12-AS1	0.776	0.280	17	6999441	missense variant	A/G	snv	0.60	0.62	8
rs778212685	CHEK2	0.827	0.120	22	28712015	missense variant	C/A;G;T	snv	4.0E-06		8
rs763538721	HIF1A-AS3 ; HIF1A	0.807	0.160	14	61740897	missense variant	T/A	snv	4.0E-06		8
rs3783521	IL1A	0.807	0.200	2	112786000	upstream gene variant	G/A	snv		0.26	8
rs17849071	PIK3CA	0.776	0.160	3	179218439	intron variant	T/G	snv		7.9E-02	8
rs1503185	PTPRJ	0.807	0.120	11	48125070	missense variant	G/A	snv	0.18	0.19	8
rs116909374		0.776	0.120	14	36269155	regulatory region variant	C/T	snv		2.3E-02	9
rs2060793	CYP2R1	0.776	0.240	11	14893764	upstream gene variant	A/G	snv		0.63	9
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
rs1297812518	LOC112268131 ; KLC1 ; XRCC3	0.763	0.160	14	103707168	missense variant	G/A	snv	1.3E-05	1.4E-05	9
rs2439302	NRG1	0.776	0.200	8	32574851	intron variant	G/C	snv		0.54	9