DisGeNET - a database of gene-disease associations

List of associated variants

Vitamin D-resistant rickets, C2363065

Source: ALL

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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
rs121909800	VDR	0.807	0.360	12	47844859	missense variant	G/A;T	snv			6
rs121909796	VDR	0.827	0.200	12	47846743	missense variant	C/A	snv			5
rs116548533	CYP24A1	0.851	0.280	20	54159083	missense variant	C/A;T	snv	4.0E-06; 4.2E-04		4
rs139280106	RELB	0.851	0.280	19	45032712	missense variant	C/G;T	snv	5.9E-05		4
rs780229030	RELB	0.851	0.280	19	45032710	missense variant	A/C	snv			4
rs377423996	VDR	0.851	0.280	12	47845002	missense variant	C/T	snv	4.0E-06	1.4E-05	4