DisGeNET - a database of gene-disease associations

List of shared variants

Astrocytoma, C0004114

Disease: Medulloblastoma

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
rs113488022	BRAF	0.351	0.840	7	140753336	missense variant	A/C;G;T	snv	4.0E-06		490
rs121913377	BRAF	0.354	0.840	7	140753335	missense variant	CA/AT;TT	mnv			480
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
rs121913500	IDH1	0.529	0.600	2	208248388	missense variant	C/A;G;T	snv	4.0E-06		96
rs121913499	IDH1	0.605	0.520	2	208248389	missense variant	G/A;C;T	snv			51
rs1801516	ATM	0.627	0.400	11	108304735	missense variant	G/A	snv	0.11	0.11	39
rs869320694	FGFR1	0.742	0.520	8	38414790	missense variant	T/C	snv			16
rs779707422	FGFR1	0.763	0.280	8	38417331	missense variant	G/A;T	snv	4.0E-06		12
rs1057519897	FGFR1	0.807	0.240	8	38414788	missense variant	C/G;T	snv	4.0E-06		6
rs1057519898	FGFR1	0.851	0.120	8	38417333	missense variant	T/C	snv			5
rs1057519899	FGFR1	0.851	0.120	8	38417879	missense variant	T/C	snv			5