DisGeNET - a database of gene-disease associations

List of associated variants

Gastrointestinal Stromal Tumors, C0238198

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
rs1560417642	KIT			4	54727482	protein altering variant	-/ACCCAACACAACTTCCTTATGATCACAAATGGGAGTTTCCCA	delins			1
rs1560417666	KIT			4	54727488	protein altering variant	-/CACAACTTCCTTATGATCACAAATGGGAGTTTCCCAGAAACAGGC	delins			1
rs1560417673	KIT			4	54727489	inframe insertion	-/ACAACTTCCTTATGATCACAAATGGGAGTTTCCCAGAAACAGGCT	delins			1
rs1560418178	KIT			4	54727909	missense variant	G/A	snv			1
rs1560420761	KIT			4	54731338	frameshift variant	AC/-	del			1
rs200871174	MSLN ; MIR662			16	768475	missense variant	C/T	snv	7.8E-04	3.6E-04	1
rs371828253	CUX1			7	102273431	missense variant	C/G	snv	2.4E-05	4.2E-05	1
rs587776793	PDGFRA			4	54285934	inframe deletion	CATGATTCGAAC/-	del			1
rs587776794	PDGFRA			4	54274863	protein altering variant	-/AGAGGG	delins			1
rs587776795	PDGFRA			4	54274865	inframe deletion	GGGTCATTGAATCAA/-	delins			1
rs587776804	KIT			4	54727418	inframe deletion	CCATGTATGAAGTAC/-	delins			1
rs606231209	PDGFRA			4	54274883	inframe deletion	AGCCCAGATGGACATGAA/-	del			1
rs75246947	MIR221 ; MIR222			X	45746891	intron variant	T/A	snv			1
rs756847384	CASP4			11	104944794	missense variant	G/C	snv	3.2E-05	7.0E-06	1
rs780708976	KIT			4	54727456	missense variant	T/A;C	snv	1.6E-05		1
rs869025568	KIT			4	54727435	inframe deletion	TGGAAG/-	delins			1
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
rs121913529	KRAS	0.492	0.680	12	25245350	missense variant	C/A;G;T	snv	4.0E-06		144
rs1056836	CYP1B1	0.581	0.680	2	38071060	missense variant	G/C	snv		0.51	58
rs2736098	TERT	0.600	0.600	5	1293971	synonymous variant	C/T	snv	0.29	0.22	48
rs121913682	KIT	0.605	0.400	4	54733167	missense variant	A/G;T	snv			52
rs121913507	KIT	0.614	0.400	4	54733155	missense variant	A/T	snv			49
rs397517132	EGFR	0.623	0.280	7	55191846	missense variant	A/T	snv			48
rs1800440	CYP1B1	0.653	0.440	2	38070996	missense variant	T/C;G	snv	0.15; 4.0E-06		29