DisGeNET - a database of gene-disease associations

List of associated variants

Hepatoblastoma, C0206624

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
rs1042522	TP53	0.426	0.800	17	7676154	missense variant	G/C;T	snv	0.67		242
rs4647924	FGFR3	0.600	0.520	4	1801844	missense variant	C/A;G;T	snv	4.2E-06; 4.2E-06		49
rs28934571	TP53	0.645	0.360	17	7674216	missense variant	C/A;G	snv			31
rs28934573	TP53	0.667	0.480	17	7674241	missense variant	G/A;C;T	snv	4.0E-06		28
rs121913400	CTNNB1	0.683	0.360	3	41224610	missense variant	C/A;G;T	snv			26
rs121913409	CTNNB1	0.708	0.400	3	41224646	missense variant	C/A;G;T	snv			21
rs121913412	CTNNB1	0.724	0.280	3	41224633	missense variant	A/C;G;T	snv			19
rs28931588	CTNNB1	0.701	0.200	3	41224606	missense variant	G/A;C;T	snv			17
rs28931589	CTNNB1	0.695	0.240	3	41224613	missense variant	G/A;C;T	snv			17
rs11655237	LINC00511 ; LINC00673	0.724	0.280	17	72404025	non coding transcript exon variant	C/T	snv		0.16	17
rs28933386	PTPN11	0.752	0.400	12	112477719	missense variant	A/G	snv	1.2E-05	7.0E-06	15
rs137854573	APC	0.807	0.120	5	112828889	stop gained	C/T	snv			10
rs762471803	YAP1	0.925	0.040	11	102114201	missense variant	T/G	snv			6
rs137854574	APC	0.925	0.120	5	112828919	stop gained	C/T	snv			4
rs768298443	TCF7L2	1.000	0.040	10	112950932	missense variant	C/A	snv	4.1E-06		2
rs780571021	TCF7L2	1.000	0.040	10	113146069	missense variant	G/C;T	snv	4.0E-06; 8.0E-06		2
rs781124288	ANXA10	1.000	0.040	4	168139494	missense variant	A/G	snv	4.0E-06		1
rs137854578	APC	1.000	0.040	5	112839777	missense variant	A/T	snv			1
rs202128953	HTATIP2	1.000	0.040	11	20364346	stop gained	G/A;T	snv	7.2E-05		1
rs763708092	MDM4	1.000	0.040	1	204549443	missense variant	G/A	snv	8.0E-06	7.0E-06	1
rs983496580	MDM4	1.000	0.040	1	204526387	missense variant	A/G	snv			1
rs1389001294	RASSF1	1.000	0.040	3	50331640	missense variant	C/T	snv		1.4E-05	1