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
rs7037324	LOC112268051	0.882	0.080	9	97896036	regulatory region variant	A/G	snv		0.71	3
rs907580		0.851	0.080	9	97860315	downstream gene variant	T/A;C;G	snv			4
rs1443434	FOXE1	0.851	0.080	9	97855197	3 prime UTR variant	G/T	snv		0.63	4
rs538912281	FOXE1 ; PTCSC2	0.925	0.080	9	97854657	missense variant	C/A;G;T	snv	2.0E-03		3
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
rs1867277	PTCSC2 ; FOXE1	0.776	0.160	9	97853632	5 prime UTR variant	A/G	snv		0.63	10
rs965513	PTCSC2	0.742	0.200	9	97793827	intron variant	A/G;T	snv			15
rs7850258	PTCSC2	0.827	0.200	9	97786731	intron variant	A/G	snv		0.72	6
rs7028661	PTCSC2	0.882	0.080	9	97776188	intron variant	A/G	snv		0.72	4
rs1365943053	PTCH1	0.882	0.080	9	95516630	missense variant	C/T	snv		7.0E-06	3
rs779791579	PTCH1	0.882	0.080	9	95508325	missense variant	G/C	snv	7.8E-04	6.1E-04	3
rs373646414	DICER1	1.000	0.080	14	95132574	missense variant	T/C	snv	1.6E-05	5.6E-05	2
rs4987206	RAD52	0.851	0.080	12	916703	missense variant	G/C	snv	2.4E-03	9.6E-03	4
rs1057519736	IDH2	0.752	0.160	15	90088605	missense variant	C/G	snv			13
rs996807218	KIDINS220	0.882	0.080	2	8827045	missense variant	T/C	snv			4
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
rs183334241	TSHZ1	0.925	0.080	18	75288186	missense variant	G/A;C	snv	1.6E-04		2
rs78081605	TSHZ1	0.925	0.080	18	75288051	missense variant	G/C	snv	8.0E-06	7.0E-06	2
rs12785878	NADSYN1	0.677	0.520	11	71456403	intron variant	G/A;T	snv			25
rs9344	CCND1	0.653	0.480	11	69648142	splice region variant	G/A	snv	0.45	0.39	34
rs5443	CDCA3 ; GNB3	0.532	0.760	12	6845711	synonymous variant	C/T	snv	0.36	0.44	106
rs763538721	HIF1A-AS3 ; HIF1A	0.807	0.160	14	61740897	missense variant	T/A	snv	4.0E-06		8
rs747463591	CCDC6	0.882	0.080	10	59906391	missense variant	C/A;G;T	snv	4.9E-06; 9.9E-06		3