DisGeNET - a database of gene-disease associations

List of associated variants

PARAGANGLIOMAS 4, C1861848

Source: UNIPROT ×

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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
rs74315368	SDHB	0.882	0.080	1	17022648	missense variant	C/T	snv	1.2E-05	1.4E-05	2
rs772551056	SDHB	0.807	0.120	1	17044824	missense variant	C/A;T	snv	4.0E-06		2
rs138996609	SDHB	0.882	0.080	1	17022685	missense variant	G/A	snv	8.0E-06	7.0E-06	1
rs74315367	SDHB	0.882	0.080	1	17024025	missense variant	G/C	snv	4.0E-06		1
rs74315370	SDHB	0.882	0.080	1	17044825	stop gained	G/A;C	snv	1.6E-05		1
rs74315372	SDHB	1.000	0.080	1	17028628	missense variant	T/C;G	snv			1
rs786202732	SDHB	0.882	0.080	1	17024041	missense variant	A/G	snv			1
rs876658367	SDHB	0.882	0.080	1	17024028	missense variant	C/T	snv			1