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
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
rs538874513	TP73	0.807	0.120	1	3730017	missense variant	C/G;T	snv	8.2E-06; 8.2E-06		6
rs749098599	TP73	0.882	0.080	1	3683085	missense variant	C/T	snv	4.0E-06	7.0E-06	4
rs1042522	TP53	0.426	0.800	17	7676154	missense variant	G/C;T	snv	0.67		242
rs1131691014	TP53	0.439	0.800	17	7676154	frameshift variant	-/C	ins			214
rs878854066	TP53	0.439	0.800	17	7676153	missense variant	GG/AC	mnv			213
rs121912651	TP53	0.605	0.680	17	7674221	missense variant	G/A;C	snv	4.0E-06		53
rs121912664	TP53	0.630	0.320	17	7670699	missense variant	C/A;G;T	snv	1.2E-05		44
rs78378222	TP53	0.662	0.360	17	7668434	3 prime UTR variant	T/G	snv		8.3E-03	37
rs786203436	TP53	0.701	0.280	17	7675125	missense variant	A/C;G;T	snv			20
rs35850753	TP53	0.807	0.080	17	7675353	5 prime UTR variant	C/T	snv		1.3E-02	8