DisGeNET - a database of gene-disease associations

List of associated variants

Pheochromocytoma, C0031511

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
rs113488022	BRAF	0.351	0.840	7	140753336	missense variant	A/C;G;T	snv	4.0E-06		22
rs1209914140	SDHB	0.925	0.080	1	17022687	frameshift variant	-/CGCCTCTGTGAAG	delins	4.0E-06		3
rs121908164	KIF1B ; LOC105376725	1.000	0.040	1	10365476	missense variant	G/A	snv	4.0E-06	7.0E-06	2
rs121908813	CIAO1 ; TMEM127	1.000	0.040	2	96265399	5 prime UTR variant	G/A	snv			1
rs121908814	TMEM127 ; CIAO1	0.925	0.040	2	96265379	start lost	C/A;T	snv			2
rs121908815	CIAO1 ; TMEM127	1.000	0.040	2	96265306	stop gained	G/A	snv			1
rs121908816	TMEM127 ; CIAO1	0.925	0.080	2	96265262	frameshift variant	ACAG/-	delins		2.1E-05	3
rs121908817	CIAO1 ; TMEM127	0.925	0.040	2	96265232	frameshift variant	-/T	delins			2
rs121908818	CIAO1 ; TMEM127	0.925	0.080	2	96265224	stop gained	C/G;T	snv		7.0E-06	1
rs121908821	TMEM127	0.882	0.080	2	96254998	splice acceptor variant	C/A;G	snv	8.0E-06		3
rs121908822	TMEM127	0.925	0.080	2	96254974	frameshift variant	TCTG/-	delins			2
rs121908825	TMEM127	1.000	0.040	2	96254832	splice donor variant	C/A	snv			1
rs121908826	TMEM127	0.882	0.080	2	96254117	splice acceptor variant	T/C;G	snv			3
rs121908827	TMEM127	1.000	0.040	2	96254107	missense variant	A/G	snv			1
rs121908828	TMEM127	1.000	0.040	2	96254106	missense variant	C/A;T	snv	4.0E-06		1
rs121908829	TMEM127	1.000	0.040	2	96254078	stop gained	C/T	snv			1
rs121908830	TMEM127	0.925	0.040	2	96254050	stop gained	G/A	snv			3
rs121908831	TMEM127	1.000	0.040	2	96253884	frameshift variant	-/TCTGAGAGCAGCTC	delins	4.0E-06		1
rs121913308	RET	0.827	0.120	10	43114492	missense variant	A/C;G;T	snv			1
rs121913377	BRAF	0.354	0.840	7	140753335	missense variant	CA/AT;TT	mnv			2
rs121917755	SDHB	1.000	0.040	1	17028724	missense variant	G/A;C	snv	8.0E-06		1
rs1306475361	SDHD	0.851	0.240	11	112088866	splice acceptor variant	G/T	snv	4.0E-06		4
rs138996609	SDHB	0.882	0.080	1	17022685	missense variant	G/A	snv	8.0E-06	7.0E-06	5
rs142441643	SDHA	0.732	0.320	5	223509	stop gained	C/T	snv	2.0E-04	2.4E-04	12
rs146646971	RET	0.807	0.120	10	43114598	missense variant	G/C;T	snv	2.4E-05		3