DisGeNET - a database of gene-disease associations

List of associated variants

Neuroblastoma, C0027819

Source: GWASCAT ×

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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
rs1800562	LOC108783645 ; HFE	0.435	0.880	6	26092913	missense variant	G/A	snv	3.3E-02	3.8E-02	18
rs1799945	LOC108783645 ; HFE	0.452	0.760	6	26090951	missense variant	C/G;T	snv	0.11	0.10	16
rs78378222	TP53	0.662	0.360	17	7668434	3 prime UTR variant	T/G	snv		8.3E-03	15
rs35850753	TP53	0.807	0.080	17	7675353	5 prime UTR variant	C/T	snv		1.3E-02	6
rs4712656	CASC15 ; NBAT1	1.000	0.040	6	22136033	non coding transcript exon variant	G/A;C	snv			4
rs1801133	MTHFR	0.472	0.880	1	11796321	missense variant	G/A	snv	0.31	0.27	4
rs2168101	LMO1 ; LOC105376536	0.827	0.200	11	8233861	intron variant	C/A	snv		0.24	3
rs110419	LOC105376536 ; LMO1	0.827	0.200	11	8231306	intron variant	A/G	snv		0.42	3
rs217727	MRPL23 ; HOTS ; H19	0.641	0.480	11	1995678	non coding transcript exon variant	G/A	snv	0.20		3
rs2153977	MAGI3	0.807	0.240	1	113537449	intron variant	C/T	snv		0.28	2
rs17251	TRBV27	0.925	0.120	7	142715462	intron variant	C/A	snv	0.33	0.37	2
rs2367486		1.000	0.040	7	142784320	upstream gene variant	A/G	snv		0.50	1
rs6959895		1.000	0.040	7	142727107	non coding transcript exon variant	T/A;C	snv			1
rs72990858		1.000	0.040	6	104699909	intergenic variant	G/A	snv		7.4E-02	1
rs17487792	BARD1	0.882	0.080	2	214778776	intron variant	C/T	snv		0.16	1
rs3768716	BARD1	0.851	0.080	2	214771070	intron variant	T/C	snv		0.16	1
rs6435862	BARD1	0.827	0.160	2	214807822	intron variant	G/A;C;T	snv			1
rs7587476	BARD1	1.000	0.040	2	214789163	intron variant	T/A;C	snv			1
rs4712653	CASC15	0.882	0.080	6	22125735	intron variant	T/C;G	snv			1
rs9295536	CASC15	0.882	0.080	6	22131700	intron variant	C/A	snv		0.58	1
rs6939340	CASC15 ; NBAT1	0.851	0.160	6	22139775	intron variant	A/G	snv		0.62	1
rs1801725	CASR	0.633	0.600	3	122284910	missense variant	G/T	snv	0.13	0.11	1
rs34330	CDKN1B ; GPR19	0.724	0.280	12	12717761	5 prime UTR variant	T/C	snv		0.70	1
rs3796727	GPR78 ; CPZ	0.882	0.080	4	8611299	intron variant	G/A	snv	0.26	0.32	1
rs4336470	HACE1	1.000	0.040	6	104732910	intron variant	C/T	snv		0.45	1