DisGeNET - a database of gene-disease associations

List of associated variants

Rhabdomyosarcoma, C0035412

Source: CLINVAR ×

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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
rs104894229	LRRC56 ; HRAS	0.564	0.600	11	534289	missense variant	C/A;G;T	snv			52
rs28934576	TP53	0.554	0.600	17	7673802	missense variant	C/A;G;T	snv	4.0E-06; 1.6E-05		39
rs104894228	LRRC56 ; HRAS	0.605	0.560	11	534286	missense variant	C/A;G;T	snv			30
rs121913529	KRAS	0.492	0.680	12	25245350	missense variant	C/A;G;T	snv	4.0E-06		19
rs121918453	PTPN11	0.732	0.280	12	112450394	missense variant	G/A;C;T	snv			15
rs1057519975	TP53	0.649	0.480	17	7675209	missense variant	A/C;G;T	snv			13
rs80357989	BRCA1	0.882	0.200	17	43094680	frameshift variant	-/TAATGAG	delins			4
rs1057519696	ALK	1.000	0.040	2	29214054	missense variant	C/T	snv			1
rs1057519792	FGFR4	1.000	0.040	5	177095415	missense variant	C/A;G	snv			1
rs1057519793	FGFR4	0.882	0.040	5	177095551	missense variant	T/A	snv			1