DisGeNET - a database of gene-disease associations

List of associated variants

Neuroblastoma, C0027819

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
rs104893937	SNCB	0.851	0.120	5	176621218	missense variant	G/T	snv	1.7E-04	2.0E-04	4
rs104894103	APTX	0.807	0.280	9	32974495	stop gained	C/G;T	snv	4.0E-06; 1.6E-04		6
rs1051266	SLC19A1	0.627	0.640	21	45537880	missense variant	T/C;G	snv	0.55; 4.4E-06		41
rs1052133	OGG1 ; CAMK1	0.476	0.800	3	9757089	missense variant	C/G	snv	0.27	0.22	147
rs1052536	LIG3	0.776	0.200	17	35004556	3 prime UTR variant	C/T	snv	0.42	0.36	10
rs1057519697	ALK	0.776	0.120	2	29220830	missense variant	A/C	snv			12
rs1057520018	STK11	0.807	0.080	19	1223124	missense variant	T/C	snv			6
rs1059111	NEFL	0.827	0.200	8	24952575	3 prime UTR variant	T/A;G	snv			5
rs10742682	HSD17B12	1.000	0.040	11	43644307	non coding transcript exon variant	C/T	snv		0.38	1
rs1076861	LOC105370401 ; LOC112267867	1.000	0.040	14	22473629	intron variant	G/A	snv		0.10	1
rs10840002		0.882	0.080	11	8221479	downstream gene variant	A/G	snv		0.49	3
rs10895322	MMP20	0.851	0.120	11	102599525	intron variant	A/G	snv		9.4E-02	4
rs10932572	BARD1	1.000	0.040	2	214762673	intron variant	A/G	snv		0.42	1
rs11037575	HSD17B12	0.882	0.080	11	43706780	intron variant	T/C	snv		0.36	4
rs110419	LOC105376536 ; LMO1	0.827	0.200	11	8231306	intron variant	A/G	snv		0.42	8
rs110420	LMO1 ; LOC105376536	0.882	0.080	11	8231502	intron variant	T/C	snv		0.42	3
rs11103603		0.851	0.080	9	134449754	TF binding site variant	T/C	snv		0.46	4
rs11134527	MIR218-2 ; SLIT3	0.677	0.400	5	168768351	intron variant	G/A	snv		0.25	24
rs11157596	LOC105370401	1.000	0.040	14	22438076	intron variant	G/A	snv		0.58	1
rs11247957	LIN28A	0.882	0.080	1	26429683	3 prime UTR variant	G/A	snv		0.21	3
rs1130409	APEX1	0.555	0.720	14	20456995	missense variant	T/A;C;G	snv	4.0E-06; 4.0E-06; 0.42		72
rs1131691014	TP53	0.439	0.800	17	7676154	frameshift variant	-/C	ins			214
rs113488022	BRAF	0.351	0.840	7	140753336	missense variant	A/C;G;T	snv	4.0E-06		490
rs113994087	ALK	0.827	0.120	2	29209798	missense variant	C/A;T	snv			12
rs11579261		1.000	0.040	1	143544453	intron variant	T/A;C	snv			1