DisGeNET - a database of gene-disease associations

List of associated variants

Tumor Progression, C0178874

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
rs10009228	CHRNA9			4	40354405	missense variant	A/G	snv	0.78	0.76	1
rs1042028	SULT1A1	0.658	0.440	16	28606193	missense variant	C/T	snv	0.22	0.30	30
rs104893626	CXCR4 ; LOC112268426	0.827	0.280	2	136114915	stop gained	G/C	snv			11
rs104894230	HRAS ; LRRC56	0.564	0.600	11	534288	missense variant	C/A;G;T	snv			73
rs1057519710	KIT	0.695	0.280	4	54733166	missense variant	G/C;T	snv			22
rs1057519771	ABL1	1.000	0.080	9	130872201	missense variant	G/C	snv			2
rs1057519847	EGFR	0.570	0.560	7	55191821	missense variant	CT/AG	mnv			72
rs1057519848	EGFR	0.570	0.560	7	55191822	missense variant	TG/GT	mnv			72
rs113488022	BRAF	0.351	0.840	7	140753336	missense variant	A/C;G;T	snv	4.0E-06		490
rs11549465	HIF1A-AS3 ; HIF1A	0.597	0.680	14	61740839	missense variant	C/T	snv	8.8E-02	7.7E-02	55
rs11549467	HIF1A ; HIF1A-AS3	0.653	0.400	14	61740857	missense variant	G/A	snv	8.9E-03	7.0E-03	30
rs11568818	MMP7	0.763	0.280	11	102530930	upstream gene variant	T/A;C	snv			15
rs11672691	PCAT19	0.925	0.080	19	41479679	non coding transcript exon variant	G/A	snv		0.42	3
rs121434568	EGFR	0.568	0.560	7	55191822	missense variant	T/A;G	snv			73
rs121434569	EGFR-AS1 ; EGFR	0.581	0.520	7	55181378	missense variant	C/T	snv	2.8E-05	5.6E-05	70
rs121913279	PIK3CA	0.526	0.560	3	179234297	missense variant	A/G;T	snv	4.0E-06; 4.0E-06		101
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
rs121917887	NME1-NME2 ; NME1	0.790	0.120	17	51161744	missense variant	A/G	snv	6.0E-05	7.0E-05	10
rs121918464	PTPN11	0.708	0.440	12	112450406	missense variant	G/A;C	snv			25
rs1273593548	PIK3CG	0.716	0.160	7	106867593	missense variant	T/G	snv	8.4E-06		19
rs1284806277	MOK	0.827	0.200	14	102251978	missense variant	A/G	snv		1.4E-05	13
rs1285136498	NR3C1	0.807	0.080	5	143400101	missense variant	G/A	snv			13
rs1288373809	TP53	0.882	0.120	17	7673255	synonymous variant	G/A	snv	5.3E-06		5
rs137852578	AR	0.827	0.080	X	67723710	missense variant	A/G	snv			10