DisGeNET - a database of gene-disease associations

List of associated variants

Adrenocortical carcinoma, C0206686

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
rs1057519747	TP53	0.716	0.280	17	7675094	missense variant	A/C;G;T	snv			17
rs587780073	TP53	0.708	0.400	17	7674262	missense variant	T/C;G	snv			17
rs747342068	TP53	0.695	0.440	17	7675218	missense variant	T/C;G	snv	4.0E-06		17
rs864622237	TP53	0.716	0.320	17	7674263	missense variant	A/C;G;T	snv			17
rs866775781	TP53	0.716	0.440	17	7675216	splice acceptor variant	C/A;G	snv			17
rs1057519983	TP53	0.724	0.360	17	7673797	missense variant	A/G	snv			16
rs1057519996	TP53	0.701	0.360	17	7675217	splice acceptor variant	T/A;C;G	snv			16
rs28934578	TP53	0.605	0.600	17	7675088	missense variant	C/A;T	snv	4.0E-06		16
rs587781991	TP53	0.724	0.240	17	7675208	missense variant	C/A;T	snv			14
rs1057519975	TP53	0.649	0.480	17	7675209	missense variant	A/C;G;T	snv			13
rs121912664	TP53	0.630	0.320	17	7670699	missense variant	C/A;G;T	snv	1.2E-05		7
rs121912667	TP53	0.851	0.200	17	7673766	missense variant	T/A	snv			3
rs375338359	TP53	0.882	0.200	17	7670684	missense variant	C/G;T	snv	8.0E-06		3
rs587782529	TP53	0.851	0.200	17	7670700	missense variant	G/A;C	snv			3
rs730882029	TP53	0.882	0.200	17	7670685	stop gained	G/A	snv			3
rs1131691023	TP53	1.000	0.080	17	7675142	missense variant	A/G;T	snv			2
rs751477326	TP53	1.000	0.080	17	7675082	missense variant	G/A;C	snv	4.0E-06		1
rs11554273	GNAS	0.689	0.240	20	58909365	missense variant	C/A;G;T	snv	4.0E-06		17
rs121913495	GNAS	0.672	0.400	20	58909366	missense variant	G/A;T	snv			15