DisGeNET - a database of gene-disease associations

List of associated variants

Choroid Plexus Carcinoma, C0431109

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
rs121912664	TP53	0.630	0.320	17	7670699	missense variant	C/A;G;T	snv	1.2E-05		44
rs121912657	TP53	0.683	0.480	17	7673806	missense variant	C/A;G;T	snv	4.0E-06		24
rs730882025	TP53	0.724	0.360	17	7674885	missense variant	C/A;G;T	snv			21
rs4464148	SMAD7	0.827	0.120	18	48932662	intron variant	T/C	snv		0.25	7
rs6918698	CCN2	0.851	0.200	6	131952117	intron variant	G/A;C	snv			5
rs121912667	TP53	0.851	0.200	17	7673766	missense variant	T/A	snv			4
rs2337107	SMAD7	0.882	0.120	18	48932953	intron variant	C/T	snv		0.52	3
rs1792658	SMAD2	0.925	0.120	18	47856234	intron variant	A/C;T	snv			2
rs2071242	FLII	1.000	0.080	17	18251196	non coding transcript exon variant	T/C	snv		0.22	1
rs1465841	SMAD3	1.000	0.080	15	67093131	intron variant	C/A;G	snv			1
rs1962859	TGFBR2 ; LOC105377016	1.000	0.080	3	30656417	intron variant	A/G	snv		0.16	1