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
rs1131691014	TP53	0.439	0.800	17	7676154	frameshift variant	-/C	ins			214
rs3783553	IL1A	0.667	0.480	2	112774138	3 prime UTR variant	-/TGAA	delins			26
rs712	KRAS	0.677	0.360	12	25209618	3 prime UTR variant	A/C	snv		0.46	24
rs1566734	PTPRJ	0.807	0.120	11	48123823	missense variant	A/C	snv	0.17	0.15	10
rs3828610	PDGFRB	0.882	0.160	5	150156062	upstream gene variant	A/C	snv		0.49	3
rs1453167097	TP53	0.925	0.080	17	7675172	missense variant	A/C	snv			2
rs377767394	RET	0.925	0.080	10	43113603	missense variant	A/C	snv			2
rs6464149	BRAF ; LOC105375536	1.000	0.080	7	140926036	upstream gene variant	A/C	snv		0.12	1
rs17879961	CHEK2	0.597	0.480	22	28725099	missense variant	A/C;G	snv	4.1E-03		53
rs2069837	IL6-AS1 ; IL6	0.724	0.520	7	22728408	intron variant	A/C;G	snv			18
rs113488022	BRAF	0.351	0.840	7	140753336	missense variant	A/C;G;T	snv	4.0E-06		490
rs1447295	CASC8	0.658	0.400	8	127472793	intron variant	A/C;T	snv			29
rs17855750	IL27	0.695	0.480	16	28503907	missense variant	A/C;T	snv	6.4E-02; 4.0E-06		21
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs10741657	CYP2R1	0.637	0.520	11	14893332	upstream gene variant	A/G	snv		0.65	34
rs1800682	ACTA2 ; FAS	0.637	0.440	10	88990206	non coding transcript exon variant	A/G	snv		0.54	32
rs3787016	POLR2E	0.677	0.280	19	1090804	intron variant	A/G	snv		0.78	24
rs10434	VEGFA	0.701	0.480	6	43785475	3 prime UTR variant	A/G	snv		0.59	17
rs619586	MALAT1	0.724	0.360	11	65498698	non coding transcript exon variant	A/G	snv	5.9E-02	3.3E-02	15
rs4646536	CYP27B1	0.724	0.440	12	57764205	intron variant	A/G	snv	0.38	0.32	14
rs1867277	PTCSC2 ; FOXE1	0.776	0.160	9	97853632	5 prime UTR variant	A/G	snv		0.63	10
rs3917225	IL1R1	0.807	0.160	2	102152842	intron variant	A/G	snv		0.36	6
rs1420106	IL18RAP	0.851	0.200	2	102418584	upstream gene variant	A/G	snv		0.78	5
rs11466653	TLR10	1.000	0.080	4	38774614	missense variant	A/G	snv	6.4E-02	4.1E-02	3
rs2296675	MGMT	1.000	0.080	10	129766734	intron variant	A/G	snv		0.13	3