DisGeNET - a database of gene-disease associations

List of associated variants

Differentiated Thyroid Gland Carcinoma, C1337013

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
rs56391007	MET	0.752	0.200	7	116771936	missense variant	C/T	snv	7.9E-03	9.0E-03	16
rs12794714	CYP2R1	0.708	0.360	11	14892029	synonymous variant	G/A	snv	0.41	0.35	15
rs619586	MALAT1	0.724	0.360	11	65498698	non coding transcript exon variant	A/G	snv	5.9E-02	3.3E-02	15
rs965513	PTCSC2	0.742	0.200	9	97793827	intron variant	A/G;T	snv			15
rs4646536	CYP27B1	0.724	0.440	12	57764205	intron variant	A/G	snv	0.38	0.32	14
rs1991517	LOC101928462 ; TSHR	0.752	0.240	14	81144239	missense variant	G/C	snv	0.90	0.91	13
rs3088440	CDKN2A ; CDKN2A-DT	0.776	0.240	9	21968160	3 prime UTR variant	G/A	snv		0.13	12
rs2296241	CYP24A1	0.763	0.200	20	54169680	synonymous variant	G/A	snv	0.49	0.51	12
rs11214077	SDHD ; TIMM8B	0.752	0.120	11	112087953	missense variant	A/G	snv	6.6E-03	6.7E-03	12
rs34677591	SDHD ; TIMM8B	0.742	0.120	11	112086941	missense variant	G/A	snv	7.5E-03	7.0E-03	12
rs116909374		0.776	0.120	14	36269155	regulatory region variant	C/T	snv		2.3E-02	11
rs1800057	ATM	0.776	0.200	11	108272729	missense variant	C/A;G	snv	1.7E-02		11
rs966423	DIRC3	0.776	0.200	2	217445617	intron variant	C/G;T	snv			11
rs3731217	CDKN2A	0.763	0.320	9	21984662	intron variant	A/C;T	snv			10
rs10877012	CYP27B1 ; METTL1	0.763	0.280	12	57768302	intron variant	G/C;T	snv			10
rs1867277	PTCSC2 ; FOXE1	0.776	0.160	9	97853632	5 prime UTR variant	A/G	snv		0.63	10
rs927650	CYP24A1	0.763	0.240	20	54156202	intron variant	T/A;C	snv			9
rs2227869	ERCC5 ; BIVM-ERCC5	0.790	0.240	13	102862735	missense variant	G/A;C	snv	4.3E-02		9
rs2439302	NRG1	0.776	0.200	8	32574851	intron variant	G/C	snv		0.54	9
rs3764340	WWOX	0.807	0.280	16	78432540	missense variant	C/G	snv	7.1E-02	7.4E-02	9
rs2230641	CCNH	0.807	0.240	5	87399457	missense variant	A/G;T	snv	0.18	0.17	8
rs4946936	FOXO3	0.790	0.160	6	108682118	3 prime UTR variant	T/A;C	snv			8
rs12885300	DIO2 ; DIO2-AS1	0.790	0.200	14	80211923	5 prime UTR variant	C/A;G;T	snv			7
rs2070593	GPX3	0.827	0.120	5	151028379	3 prime UTR variant	G/A;T	snv		0.20	6
rs768827923	PIK3CD	0.851	0.080	1	9721816	missense variant	T/G	snv			6