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
rs1057519975	TP53	0.649	0.480	17	7675209	missense variant	A/C;G;T	snv			13
rs121913338	BRAF	0.677	0.400	7	140753354	missense variant	T/A;C;G	snv			12
rs397516896	BRAF	0.763	0.360	7	140753355	missense variant	C/G;T	snv			11
rs121913399	CTNNB1	0.724	0.200	3	41224612	missense variant	G/A;C	snv			10
rs121913407	CTNNB1	0.763	0.240	3	41224645	missense variant	T/C;G	snv			10
rs121913412	CTNNB1	0.724	0.280	3	41224633	missense variant	A/C;G;T	snv			10
rs121913409	CTNNB1	0.708	0.400	3	41224646	missense variant	C/A;G;T	snv			9
rs121913413	CTNNB1	0.763	0.240	3	41224634	missense variant	C/A;T	snv			9
rs121912664	TP53	0.630	0.320	17	7670699	missense variant	C/A;G;T	snv	1.2E-05		7
rs786205050	CACNA1H	0.827	0.080	16	1212024	missense variant	A/G	snv		7.0E-06	4
rs6471	CYP21A2	0.683	0.360	6	32040110	missense variant	G/A;C;T	snv	1.2E-05; 5.3E-03		4
rs1057519902	H3-3A	0.742	0.160	1	226064451	missense variant	G/C	snv			4
rs63749993	MSH2	0.882	0.200	2	47476424	missense variant	T/G	snv			3
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