DisGeNET - a database of gene-disease associations

List of shared variants

Central neuroblastoma, C0700095

Disease: Mammary Neoplasms

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
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs397507444	MTHFR	0.405	0.880	1	11794407	missense variant	T/G	snv			306
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
rs2273535	AURKA	0.645	0.360	20	56386485	missense variant	A/C;T	snv	0.28		38
rs786203436	TP53	0.701	0.280	17	7675125	missense variant	A/C;G;T	snv			20
rs113994087	ALK	0.827	0.120	2	29209798	missense variant	C/A;T	snv			12