DisGeNET - a database of gene-disease associations

List of associated variants

Thyroid carcinoma, C0549473

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
rs1544410	VDR	0.542	0.760	12	47846052	intron variant	C/A;G;T	snv			78
rs7975232	VDR	0.576	0.760	12	47845054	intron variant	C/A	snv	0.51	0.55	56
rs10069690	TERT	0.595	0.560	5	1279675	intron variant	C/T	snv		0.36	53
rs187238	IL18	0.602	0.680	11	112164265	intron variant	C/A;G	snv			48
rs1946518	IL18	0.602	0.760	11	112164735	intron variant	T/G	snv		0.60	46
rs12785878	NADSYN1	0.677	0.520	11	71456403	intron variant	G/A;T	snv			25
rs965513	PTCSC2	0.742	0.200	9	97793827	intron variant	A/G;T	snv			15
rs11674595	IL1R2	0.763	0.200	2	101994530	intron variant	T/C	snv		0.22	13
rs2072472	IL1R2	0.732	0.200	2	102026557	intron variant	A/G	snv		0.24	13
rs2221903	IL21-AS1 ; IL21	0.752	0.360	4	122617757	intron variant	C/T	snv		0.77	12
rs12508721	IL21-AS1	0.742	0.360	4	122623509	intron variant	C/T	snv		0.24	11
rs966423	DIRC3	0.776	0.200	2	217445617	intron variant	C/G;T	snv			11
rs2439302	NRG1	0.776	0.200	8	32574851	intron variant	G/C	snv		0.54	9
rs1443438	PTCSC2	0.827	0.080	9	97787746	intron variant	T/A;C	snv			8
rs17849071	PIK3CA	0.776	0.160	3	179218439	intron variant	T/G	snv		7.9E-02	8
rs56062135	SMAD3	0.790	0.200	15	67163292	intron variant	C/T	snv		0.18	8
rs2245214	ATG5	0.827	0.240	6	106214866	intron variant	C/G	snv		0.42	6
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
rs925489	PTCSC2	0.882	0.080	9	97784318	intron variant	C/T	snv		0.71	6
rs10759944	PTCSC2	0.925	0.080	9	97794690	intron variant	A/G	snv		0.72	4
rs13143866	IL21 ; IL21-AS1	0.851	0.200	4	122619603	intron variant	G/A	snv		0.24	4
rs1946519	IL18	0.851	0.120	11	112164784	intron variant	A/C	snv		0.60	4
rs7028661	PTCSC2	0.882	0.080	9	97776188	intron variant	A/G	snv		0.72	4
rs10951937	SUN3	0.882	0.080	7	47992027	intron variant	A/C	snv		0.43	3