DisGeNET - a database of gene-disease associations

List of associated variants

Malignant neoplasm of soft tissue, C4551686

Source: BEFREE ×

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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
rs1131691014	TP53	0.439	0.800	17	7676154	frameshift variant	-/C	ins			213
rs878854066	TP53	0.439	0.800	17	7676153	missense variant	GG/AC	mnv			213
rs762846821	TP53	0.614	0.320	17	7675151	missense variant	C/A;T	snv	8.0E-06		56
rs1057519975	TP53	0.649	0.480	17	7675209	missense variant	A/C;G;T	snv			21
rs121912665	TP53	1.000	0.120	17	7674965	missense variant	G/A	snv	2.4E-05	7.0E-06	7
rs1057519747	TP53	0.716	0.280	17	7675094	missense variant	A/C;G;T	snv			6
rs1346044	WRN	0.708	0.440	8	31167138	missense variant	T/C	snv	0.24	0.23	23