DisGeNET - a database of gene-disease associations

List of associated variants

Teratoma, C0039538

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
rs121913506	KIT	0.677	0.320	4	54733154	missense variant	G/A;C;T	snv			24
rs1057519710	KIT	0.695	0.280	4	54733166	missense variant	G/C;T	snv			22
rs28940298	VHL	0.776	0.280	3	10149921	missense variant	C/T	snv	2.1E-04	1.0E-04	9
rs1555706928	SETBP1	0.851	0.240	18	44951954	missense variant	G/A	snv			8
rs104893824	VHL	0.776	0.320	3	10142181	missense variant	T/A;C	snv			8
rs5030821	VHL	0.827	0.280	3	10149823	missense variant	G/A;C;T	snv	4.0E-06		8
rs755383	DMRT1	0.807	0.120	9	863635	intron variant	C/T	snv		0.54	7
rs1553632357	CTNNB1	0.882	0.120	3	41236421	stop gained	G/T	snv			5