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	Num. diseases
rs113488022	BRAF	0.351	0.840	7	140753336	missense variant	A/C;G;T	snv	4.0E-06	490
rs121913377	BRAF	0.354	0.840	7	140753335	missense variant	CA/AT;TT	mnv		480
rs1042522	TP53	0.426	0.800	17	7676154	missense variant	G/C;T	snv	0.67	242
rs1131691014	TP53	0.439	0.800	17	7676154	frameshift variant	-/C	ins		214
rs878854066	TP53	0.439	0.800	17	7676153	missense variant	GG/AC	mnv		213
rs121913529	KRAS	0.492	0.680	12	25245350	missense variant	C/A;G;T	snv	4.0E-06	144
rs13181	KLC3 ; ERCC2	0.487	0.760	19	45351661	stop gained	T/A;G	snv	4.0E-06; 0.32	134
rs231775	CTLA4	0.504	0.720	2	203867991	missense variant	A/G;T	snv	0.42; 4.0E-06	115
rs25489	XRCC1	0.550	0.720	19	43552260	missense variant	C/G;T	snv	8.5E-06; 7.1E-02	78
rs104886003	PIK3CA	0.562	0.440	3	179218303	missense variant	G/A;C	snv	4.0E-06	71
rs11554290	NRAS	0.583	0.600	1	114713908	missense variant	T/A;C;G	snv		59
rs28362491	LOC105377621 ; NFKB1	0.592	0.720	4	102500998	non coding transcript exon variant	ATTG/-	delins		56
rs17879961	CHEK2	0.597	0.480	22	28725099	missense variant	A/C;G	snv	4.1E-03	53
rs121913237	NRAS	0.611	0.560	1	114716126	missense variant	C/A;G;T	snv	8.0E-06	50
rs187238	IL18	0.602	0.680	11	112164265	intron variant	C/A;G	snv		48
rs397517132	EGFR	0.623	0.280	7	55191846	missense variant	A/T	snv		48
rs2292832	MIR149 ; GPC1 ; LOC100130449	0.605	0.640	2	240456086	non coding transcript exon variant	T/A;C	snv	0.59	46
rs121913233	HRAS ; LRRC56	0.627	0.520	11	533874	missense variant	T/A;C;G	snv		37
rs1057519695	NRAS	0.641	0.520	1	114713907	missense variant	TT/CA;CC	mnv		35
rs121913364	BRAF	0.641	0.520	7	140753334	missense variant	T/C;G	snv	4.0E-06	34
rs74799832	RET	0.662	0.280	10	43121968	missense variant	T/C	snv	4.0E-06	33
rs1057519834	NRAS	0.658	0.480	1	114713908	missense variant	TG/CT	mnv		31
rs121913227	BRAF	0.653	0.320	7	140753336	missense variant	AC/CT;TT	mnv		31
rs121913254	NRAS	0.658	0.440	1	114713909	stop gained	G/A;C;T	snv		31
rs1447295	CASC8	0.658	0.400	8	127472793	intron variant	A/C;T	snv		29