DisGeNET - a database of gene-disease associations

List of associated variants

Neuroblastoma, C0027819

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
rs121908531	YARS2 ; DNM1L	0.851	0.080	12	32731118	missense variant	C/A;G	snv			4
rs1799782	XRCC1	0.474	0.800	19	43553422	missense variant	G/A	snv	9.5E-02	7.0E-02	151
rs25489	XRCC1	0.550	0.720	19	43552260	missense variant	C/G;T	snv	8.5E-06; 7.1E-02		78
rs915927	XRCC1	0.827	0.120	19	43553075	synonymous variant	T/A;C;G	snv	0.37		5
rs2228000	XPC	0.585	0.560	3	14158387	missense variant	G/A	snv	0.24	0.21	53
rs2229090	XPC	0.827	0.160	3	14145845	3 prime UTR variant	G/C	snv	0.25	0.22	6
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
rs201668878	UBE4A	0.882	0.080	11	118373576	missense variant	T/C	snv	1.7E-04	1.0E-04	4
rs1448674651	TYMS ; ENOSF1	0.667	0.560	18	671384	missense variant	G/A;C	snv	4.0E-06		23
rs587777074	TUBB4A	0.790	0.240	19	6495688	missense variant	C/T	snv	4.0E-06		7
rs28933979	TTR	0.587	0.600	18	31592974	missense variant	G/A;C	snv	1.0E-04		70
rs79977247	TTR	0.776	0.200	18	31592975	missense variant	T/C;G	snv			9
rs28933981	TTR	0.807	0.200	18	31598647	missense variant	C/T	snv	1.5E-03	1.7E-03	8
rs4500567	TSPAN8	0.807	0.200	12	71166082	intron variant	G/A;C	snv			6
rs2191311	TRGVB	1.000	0.040	7	38295919	non coding transcript exon variant	T/G	snv		0.33	1
rs2240849	TRGVA	1.000	0.040	7	38322471	non coding transcript exon variant	A/G	snv		0.12	1
rs11765884	TRGV9	1.000	0.040	7	38317722	5 prime UTR variant	C/T	snv		0.20	1
rs11769443	TRGV9	1.000	0.040	7	38317474	missense variant	T/C	snv	0.39	0.42	1
rs11980080	TRGV9	1.000	0.040	7	38317593	5 prime UTR variant	T/C	snv		5.7E-02	1
rs2240845	TRGV9	1.000	0.040	7	38318811	5 prime UTR variant	T/C	snv		0.38	1
rs2534565	TRGV9	1.000	0.040	7	38318626	5 prime UTR variant	C/T	snv		4.6E-02	1
rs2240853	TRGV7	1.000	0.040	7	38335096	non coding transcript exon variant	G/A	snv		0.36	1
rs1860520	TRGV11	1.000	0.040	7	38291670	missense variant	C/A	snv	6.2E-02	0.19	1
rs1860521	TRGV11	1.000	0.040	7	38291903	missense variant	C/T	snv	6.5E-02	0.19	1