DisGeNET - a database of gene-disease associations

List of associated variants

NEUROBLASTOMA, SUSCEPTIBILITY TO, C2749484

Source: INFERRED ×

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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
rs587781525	TP53	0.689	0.480	17	7673778	missense variant	T/A;C;G	snv			20
rs764146326	TP53	0.662	0.480	17	7673779	missense variant	C/A;G;T	snv	4.0E-06		20
rs121918454	PTPN11	0.742	0.280	12	112450395	missense variant	C/A;G;T	snv			16
rs121918453	PTPN11	0.732	0.280	12	112450394	missense variant	G/A;C;T	snv			15
rs1057519933	PIK3CA	0.790	0.240	3	179199156	missense variant	A/G	snv			11
rs1057519934	PIK3CA	0.790	0.240	3	179199158	missense variant	G/C	snv			11
rs1057519935	PIK3CA	0.790	0.240	3	179199157	missense variant	A/G	snv			11
rs779707422	FGFR1	0.763	0.280	8	38417331	missense variant	G/A;T	snv	4.0E-06		7
rs121918464	PTPN11	0.708	0.440	12	112450406	missense variant	G/A;C	snv			7
rs756091827	MYC ; CASC11	0.851	0.200	8	127738435	missense variant	C/G;T	snv			6
rs121918465	PTPN11	0.827	0.200	12	112450407	missense variant	A/C;G;T	snv			6
rs1057519918	CASC11 ; MYC	0.851	0.200	8	127738390	missense variant	C/T	snv			5
rs750664148	CASC11 ; MYC	0.851	0.200	8	127738434	missense variant	A/C;G	snv			5
rs1057519898	FGFR1	0.851	0.120	8	38417333	missense variant	T/C	snv			5
rs1057519899	FGFR1	0.851	0.120	8	38417879	missense variant	T/C	snv			5
rs1057519919	MYCNOS ; MYCN	0.851	0.160	2	15942195	missense variant	C/T	snv			5
rs113994087	ALK	0.827	0.120	2	29209798	missense variant	C/A;T	snv			4
rs113994088	ALK	0.925	0.080	2	29222584	missense variant	C/G	snv			3
rs113994089	ALK	0.925	0.120	2	29220776	missense variant	C/G;T	snv			3
rs863225281	ALK	0.776	0.200	2	29220829	missense variant	G/C;T	snv			3
rs113994091	ALK	0.882	0.160	2	29222407	missense variant	G/A;C	snv	3.2E-05		2
rs113994092	ALK	1.000		2	29209873	missense variant	A/G	snv	8.0E-06	7.0E-06	2
rs281864719	ALK	0.763	0.240	2	29220831	missense variant	A/C;G;T	snv			2
rs281864720	ALK	0.925	0.040	2	29213994	missense variant	A/C;G;T	snv			2
rs863225283	ALK	0.925	0.080	2	29213993	missense variant	A/C	snv			2