DisGeNET - a database of gene-disease associations

List of shared variants

melanoma, C0025202

Disease: Transitional cell carcinoma of 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
rs28931588	CTNNB1	0.701	0.200	3	41224606	missense variant	G/A;C;T	snv			17
rs397507444	MTHFR	0.405	0.880	1	11794407	missense variant	T/G	snv			306
rs397516792	MAP2K1	0.827	0.280	15	66436825	missense variant	C/A;G;T	snv			6
rs397516896	BRAF	0.763	0.360	7	140753355	missense variant	C/G;T	snv			11
rs878854066	TP53	0.439	0.800	17	7676153	missense variant	GG/AC	mnv			213
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs2228001	XPC	0.570	0.480	3	14145949	missense variant	G/T	snv	0.63	0.65	60