DisGeNET - a database of gene-disease associations

List of associated variants

Familial Hypophosphatemic Rickets, C3536983

Source: ALL

Results per page

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
rs11554290	NRAS	0.583	0.600	1	114713908	missense variant	T/A;C;G	snv			59
rs1057519695	NRAS	0.641	0.520	1	114713907	missense variant	TT/CA;CC	mnv			35
rs1057519834	NRAS	0.658	0.480	1	114713908	missense variant	TG/CT	mnv			31
rs875989883	PTCHD1-AS ; PHEX	0.851	0.280	X	22219070	missense variant	G/A;C	snv			9
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
rs797044787	L1CAM	0.851	0.240	X	153870123	synonymous variant	G/A	snv			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
rs755686699	PTCHD1-AS ; PHEX	0.882	0.200	X	22221653	stop gained	G/A;T	snv	5.5E-06		3
rs121909799	VDR	0.925	0.200	12	47846418	missense variant	A/C	snv	5.4E-06		2
rs121909801	VDR	0.925	0.200	12	47879026	stop gained	G/A;C	snv	1.6E-05		2
rs886037890	VDR	0.925	0.200	12	47844840	missense variant	T/G	snv			2