DisGeNET - a database of gene-disease associations

List of associated variants

Papillary thyroid carcinoma, C0238463

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
rs10069690	TERT	0.595	0.560	5	1279675	intron variant	C/T	snv		0.36	53
rs10119760		1.000	0.080	9	97862320	intergenic variant	G/C;T	snv			1
rs1025689	IL17RB	1.000	0.080	3	53849695	synonymous variant	C/A;G;T	snv	8.0E-06; 0.56		1
rs1042522	TP53	0.426	0.800	17	7676154	missense variant	G/C;T	snv	0.67		242
rs10434	VEGFA	0.701	0.480	6	43785475	3 prime UTR variant	A/G	snv		0.59	17
rs104886003	PIK3CA	0.562	0.440	3	179218303	missense variant	G/A;C	snv	4.0E-06		71
rs1057519695	NRAS	0.641	0.520	1	114713907	missense variant	TT/CA;CC	mnv			35
rs1057519834	NRAS	0.658	0.480	1	114713908	missense variant	TG/CT	mnv			31
rs1057519855	HRAS ; LRRC56	0.776	0.120	11	533873	missense variant	CT/AC;TC	mnv			11
rs1061758	IL11RA	1.000	0.080	9	34652333	intron variant	A/G	snv		0.76	1
rs10741657	CYP2R1	0.637	0.520	11	14893332	upstream gene variant	A/G	snv		0.65	34
rs10877012	CYP27B1 ; METTL1	0.763	0.280	12	57768302	intron variant	G/C;T	snv			10
rs10877887	LINC01465 ; MIRLET7I	0.701	0.440	12	62603400	non coding transcript exon variant	T/C	snv		0.42	18
rs11175834	LINC02454 ; LOC100507065	0.925	0.080	12	65598856	intron variant	C/T	snv		0.14	2
rs11246050	NLRP6	1.000	0.080	11	284257	synonymous variant	G/A;C	snv	0.16; 4.0E-06		2
rs1126757	IL11	0.882	0.120	19	55368504	synonymous variant	C/G;T	snv	4.1E-06; 0.48		3
rs1131691014	TP53	0.439	0.800	17	7676154	frameshift variant	-/C	ins			214
rs113488022	BRAF	0.351	0.840	7	140753336	missense variant	A/C;G;T	snv	4.0E-06		490
rs1137282	KRAS	0.851	0.120	12	25209843	missense variant	A/G;T	snv	0.19		5
rs1143627	IL1B	0.605	0.760	2	112836810	5 prime UTR variant	G/A	snv		0.56	47
rs1143633	IL1B	0.752	0.280	2	112832890	intron variant	C/G;T	snv			11
rs1143643	IL1B	0.790	0.320	2	112830725	intron variant	C/T	snv		0.29	10
rs1143770	MIRLET7A2 ; MIR100HG	0.882	0.200	11	122146890	intron variant	C/T	snv		0.53	4
rs11466653	TLR10	1.000	0.080	4	38774614	missense variant	A/G	snv	6.4E-02	4.1E-02	3
rs11554290	NRAS	0.583	0.600	1	114713908	missense variant	T/A;C;G	snv			59