DisGeNET - a database of gene-disease associations

List of associated variants

Thyroid Nodule, C0040137

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
rs113488022	BRAF	0.351	0.840	7	140753336	missense variant	A/C;G;T	snv	4.0E-06		490
rs121913377	BRAF	0.354	0.840	7	140753335	missense variant	CA/AT;TT	mnv			480
rs1799782	XRCC1	0.474	0.800	19	43553422	missense variant	G/A	snv	9.5E-02	7.0E-02	151
rs104894229	LRRC56 ; HRAS	0.564	0.600	11	534289	missense variant	C/A;G;T	snv			73
rs121913530	KRAS	0.583	0.640	12	25245351	missense variant	C/A;G;T	snv			63
rs121909224	PTEN	0.627	0.560	10	87933147	stop gained	C/G;T	snv	1.2E-05		41
rs121913364	BRAF	0.641	0.520	7	140753334	missense variant	T/C;G	snv	4.0E-06		34
rs121909231	PTEN	0.667	0.600	10	87961095	stop gained	C/A;T	snv			32
rs121909218	PTEN	0.672	0.360	10	87933145	missense variant	G/A	snv			25
rs121909219	PTEN	0.689	0.400	10	87957915	stop gained	C/A;T	snv			25
rs712	KRAS	0.677	0.360	12	25209618	3 prime UTR variant	A/C	snv		0.46	24
rs786204858	PTEN	0.776	0.280	10	87933079	missense variant	A/G;T	snv			11
rs1800472	TGFB1	0.752	0.360	19	41341955	missense variant	G/A	snv	2.6E-02	2.3E-02	11
rs1179469165	LOC101928462 ; TSHR	0.925	0.080	14	81143917	missense variant	C/T	snv	8.0E-06	7.0E-06	2
rs1800862	RET	0.925	0.160	10	43119646	synonymous variant	C/T	snv	4.5E-02	3.9E-02	2
rs1432155504	GGT2	1.000	0.080	22	21225543	missense variant	C/G	snv			1
rs4745021	TRPM3	1.000	0.080	9	70652691	intron variant	T/A;G	snv			1