DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variants associated to the Gene: GNA11 ×

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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
rs1057519742	GNA11	0.827	0.160	19	3118944	missense variant	A/C;T	snv			3
rs672601249	GNA11	1.000	0.040	19	3115061	inframe deletion	ATC/-	delins			1
rs587777019	GNA11	0.882	0.120	19	3113412	missense variant	T/A	snv			1
rs587777022	GNA11	1.000		19	3118950	missense variant	C/G;T	snv	4.0E-06		1
rs587777021	GNA11	1.000		19	3110190	missense variant	C/T	snv			1
rs587777707	GNA11	1.000		19	3110191	missense variant	G/A;T	snv	4.0E-06		1
rs587777020	GNA11	0.925	0.080	19	3115009	missense variant	G/A	snv			1
rs140749796	GNA11	0.925	0.080	19	3121122	missense variant	C/G;T	snv	8.0E-06		1