DisGeNET - a database of gene-disease associations

List of associated variants

Malignant neoplasm of soft tissue, C4551686

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
rs121913238	KRAS	0.732	0.240	12	25227343	missense variant	G/C;T	snv			17
rs1057519861	EGFR ; EGFR-AS1	0.776	0.080	7	55181398	missense variant	T/A	snv			15
rs934945	PER2	0.827	0.200	2	238246412	missense variant	C/T	snv	0.21	0.15	10
rs1057519781	ALK	0.807	0.160	2	29209816	missense variant	C/G	snv			9
rs121912665	TP53	1.000	0.120	17	7674965	missense variant	G/A	snv	2.4E-05	7.0E-06	7
rs267606985	PTHLH	1.000		12	27963693	missense variant	A/G	snv			3
rs1238684646	DICER1			14	95090640	missense variant	C/G	snv	4.0E-06		2