DisGeNET - a database of gene-disease associations

List of associated variants

Central neuroblastoma, C0700095

Source: ALL

Results per page

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
rs1501899	CASR	0.790	0.240	3	122188481	intron variant	A/G	snv		0.62	8
rs1057520018	STK11	0.807	0.080	19	1223124	missense variant	T/C	snv			6
rs59912467	STK11	0.790	0.120	19	1223126	missense variant	C/G;T	snv	5.2E-03; 4.1E-06		7
rs780294601	PPARG	0.851	0.080	3	12416967	missense variant	G/C	snv	4.4E-05	1.4E-05	4
rs430397	HSPA5	0.763	0.240	9	125238840	intron variant	C/T	snv	9.1E-02	0.11	9
rs391957	HSPA5 ; LOC107987127	0.763	0.240	9	125241745	non coding transcript exon variant	T/C	snv		0.72	10
rs1415224147	MAPKAP1	0.882	0.080	9	125585715	missense variant	T/C	snv			3
rs34330	CDKN1B ; GPR19	0.724	0.280	12	12717761	5 prime UTR variant	T/C	snv		0.70	15
rs11103603		0.851	0.080	9	134449754	TF binding site variant	T/C	snv		0.46	4
rs2276466	ERCC4	0.732	0.320	16	13949318	3 prime UTR variant	C/A;G	snv			15
rs121913377	BRAF	0.354	0.840	7	140753335	missense variant	CA/AT;TT	mnv			480
rs113488022	BRAF	0.351	0.840	7	140753336	missense variant	A/C;G;T	snv	4.0E-06		490
rs2229090	XPC	0.827	0.160	3	14145845	3 prime UTR variant	G/C	snv	0.25	0.22	6
rs2228000	XPC	0.585	0.560	3	14158387	missense variant	G/A	snv	0.24	0.21	53
rs1301478248	CASP9	0.882	0.080	1	15495395	missense variant	C/T	snv			3
rs6336	NTRK1	0.827	0.120	1	156879126	missense variant	C/T	snv	4.2E-02	3.7E-02	5
rs6441201	RSRC1	0.882	0.080	3	158460535	intron variant	G/A	snv		0.51	3
rs13034994	MYCNOS	0.882	0.080	2	15938513	non coding transcript exon variant	A/C;G	snv			3
rs9653226	MYCNOS ; MYCN	0.882	0.080	2	15939632	intron variant	C/T	snv		0.54	3
rs57961569	MYCNOS ; MYCN	0.827	0.200	2	15939643	intron variant	G/A;C	snv			5
rs60226897	MYCN	0.882	0.080	2	15947252	downstream gene variant	G/A	snv		4.3E-02	3
rs4987023	SOD2	0.807	0.120	6	159692661	missense variant	C/T	snv		7.0E-06	6
rs45511401	ABCC1	0.851	0.120	16	16079375	missense variant	G/T	snv	3.8E-02	3.6E-02	4
rs1027702		0.882	0.080	1	161743067	intergenic variant	C/T	snv		0.51	3
rs1438259227	PRKN	0.827	0.080	6	162443428	missense variant	T/A	snv		7.0E-06	5