DisGeNET - a database of gene-disease associations

List of shared variants

Neoplasm Metastasis, C0027627

Disease: Malignant neoplasm of urinary bladder

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
rs3918242	MMP9	0.602	0.680	20	46007337	upstream gene variant	C/T	snv		0.14	54
rs17576	MMP9	0.557	0.760	20	46011586	missense variant	A/G	snv	0.39	0.36	73
rs2250889	SLC12A5-AS1 ; MMP9	0.667	0.520	20	46013767	missense variant	G/C;T	snv	0.88; 1.6E-05		24
rs1799864	CCR2	0.572	0.680	3	46357717	missense variant	G/A	snv	0.13	0.12	68
rs104894228	LRRC56 ; HRAS	0.605	0.560	11	534286	missense variant	C/A;G;T	snv			48
rs11614913	HOXC6 ; MIR196A2	0.512	0.760	12	53991815	mature miRNA variant	C/T	snv	0.39	0.34	111
rs758272654	GNAS	0.611	0.680	20	58909201	synonymous variant	T/C	snv	4.0E-06	7.0E-06	50
rs5443	CDCA3 ; GNB3	0.532	0.760	12	6845711	synonymous variant	C/T	snv	0.36	0.44	106
rs878854066	TP53	0.439	0.800	17	7676153	missense variant	GG/AC	mnv			213
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