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
rs1131691014	TP53	0.439	0.800	17	7676154	frameshift variant	-/C	ins			214
rs360718	IL18	0.827	0.120	11	112164016	5 prime UTR variant	A/C	snv		0.26	5
rs1946519	IL18	0.851	0.120	11	112164784	intron variant	A/C	snv		0.60	4
rs10951937	SUN3	0.882	0.080	7	47992027	intron variant	A/C	snv		0.43	3
rs17879961	CHEK2	0.597	0.480	22	28725099	missense variant	A/C;G	snv	4.1E-03		53
rs1800858	RET	0.851	0.160	10	43100520	synonymous variant	A/C;G	snv	0.73		4
rs113488022	BRAF	0.351	0.840	7	140753336	missense variant	A/C;G;T	snv	4.0E-06		490
rs699947	VEGFA	0.570	0.680	6	43768652	upstream gene variant	A/C;T	snv			67
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs1136410	PARP1	0.559	0.760	1	226367601	missense variant	A/G	snv	0.21	0.15	70
rs2241880	SCARNA5 ; ATG16L1	0.627	0.600	2	233274722	missense variant	A/G	snv	0.45	0.44	37
rs2072472	IL1R2	0.732	0.200	2	102026557	intron variant	A/G	snv		0.24	13
rs11214077	SDHD ; TIMM8B	0.752	0.120	11	112087953	missense variant	A/G	snv	6.6E-03	6.7E-03	12
rs2060793	CYP2R1	0.776	0.240	11	14893764	upstream gene variant	A/G	snv		0.63	11
rs12628	LRRC56 ; HRAS	0.776	0.160	11	534242	synonymous variant	A/G	snv	0.32	0.34	10
rs1867277	PTCSC2 ; FOXE1	0.776	0.160	9	97853632	5 prime UTR variant	A/G	snv		0.63	10
rs33917957	MET	0.790	0.120	7	116700208	missense variant	A/G	snv	2.7E-02	1.8E-02	10
rs1169803481	EGFR	0.807	0.160	7	55198851	missense variant	A/G	snv	4.0E-06		7
rs3917225	IL1R1	0.807	0.160	2	102152842	intron variant	A/G	snv		0.36	6
rs7850258	PTCSC2	0.827	0.200	9	97786731	intron variant	A/G	snv		0.72	6
rs145475805	TG	0.882	0.080	8	132887509	missense variant	A/G	snv	8.8E-05	3.3E-04	4
rs7028661	PTCSC2	0.882	0.080	9	97776188	intron variant	A/G	snv		0.72	4
rs1032006770	EGFR	0.882	0.080	7	55160171	missense variant	A/G	snv	4.0E-06	7.0E-06	3
rs180414	SLC38A4	0.882	0.080	12	46775115	synonymous variant	A/G	snv		3.1E-03	3
rs7037324	LOC112268051	0.882	0.080	9	97896036	regulatory region variant	A/G	snv		0.71	3