DisGeNET - a database of gene-disease associations

List of associated variants

Childhood Neuroblastoma, C4086165

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
rs729147	ADH7	0.882	0.080	4	99412110	downstream gene variant	G/A	snv		0.78	3
rs1800975	XPA	0.701	0.360	9	97697296	5 prime UTR variant	T/C;G	snv	0.63; 4.5E-06; 4.5E-06		19
rs3176752	XPA	0.882	0.080	9	97675205	3 prime UTR variant	G/T	snv	3.8E-02	2.3E-02	3
rs1052133	OGG1 ; CAMK1	0.476	0.800	3	9757089	missense variant	C/G	snv	0.27	0.22	147
rs1442511697	ADRA2B	0.882	0.080	2	96115494	missense variant	T/C	snv		7.0E-06	3
rs3784730	ST8SIA2	0.851	0.120	15	92443898	intron variant	A/G	snv		0.44	6
rs2168351	ST8SIA2	0.851	0.120	15	92440492	intron variant	A/G	snv		0.33	6
rs104893878	SNCA ; SNCA-AS1	0.732	0.160	4	89835580	missense variant	C/G	snv			21
rs104893877	SNCA	0.614	0.360	4	89828149	missense variant	C/T	snv			59
rs17016074	SNCA	0.851	0.080	4	89726127	3 prime UTR variant	G/A	snv		4.7E-02	4
rs147992979	NTRK3	0.882	0.080	15	88184270	missense variant	G/A	snv	8.0E-05	4.4E-05	3
rs63750355	CHMP2B	0.827	0.160	3	87253472	stop gained	C/T	snv			5
rs3796725	CPZ ; GPR78	0.882	0.080	4	8616210	intron variant	C/T	snv		0.23	3
rs3796727	GPR78 ; CPZ	0.882	0.080	4	8611299	intron variant	G/A	snv	0.26	0.32	3
rs369576054	ARHGAP24 ; MAPK10	0.807	0.120	4	85994925	missense variant	C/T	snv	2.8E-05	4.9E-05	6
rs377522479	ARHGAP24	0.882	0.080	4	85931021	missense variant	C/T	snv	2.0E-05	3.5E-05	4
rs771723690	ARHGAP24	0.882	0.080	4	85570622	synonymous variant	G/A	snv	1.6E-05		3
rs749242026	PTPRD	0.882	0.080	9	8341203	missense variant	G/T	snv	8.0E-06		3
rs204938	LMO1	0.882	0.080	11	8256650	intron variant	C/T	snv		0.49	3
rs2168101	LMO1 ; LOC105376536	0.827	0.200	11	8233861	intron variant	C/A	snv		0.24	7
rs204926	LMO1 ; LOC105376536	0.882	0.080	11	8233559	intron variant	G/A	snv		0.41	3
rs110420	LMO1 ; LOC105376536	0.882	0.080	11	8231502	intron variant	T/C	snv		0.42	3
rs110419	LOC105376536 ; LMO1	0.827	0.200	11	8231306	intron variant	A/G	snv		0.42	8
rs3750952	LOC105376536 ; LMO1	0.882	0.080	11	8230374	synonymous variant	G/C;T	snv	0.45; 4.8E-05		3
rs10840002		0.882	0.080	11	8221479	downstream gene variant	A/G	snv		0.49	3