DisGeNET - a database of gene-disease associations

List of associated variants

Hypophosphatemic Rickets, X-Linked Dominant, C0733682

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
rs875989883	PTCHD1-AS ; PHEX	0.851	0.280	X	22219070	missense variant	G/A;C	snv			9
rs11646213		0.827	0.320	16	82609046	intergenic variant	A/T	snv		0.47	6
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
rs886039584	PHEX	0.882	0.200	X	22114493	stop gained	G/A	snv			3
rs755686699	PTCHD1-AS ; PHEX	0.882	0.200	X	22221653	stop gained	G/A;T	snv	5.5E-06		3
rs1064793956	PHEX	1.000	0.200	X	22090444	frameshift variant	TC/-	delins			1
rs1064796928	PHEX	1.000	0.200	X	22178377	splice donor variant	G/A;T	snv			1
rs1085308012	PHEX	1.000	0.200	X	22133586	missense variant	T/C	snv			1
rs1131691731	PHEX	1.000	0.200	X	22033124	splice donor variant	G/T	snv			1
rs137853268	PHEX	1.000	0.200	X	22094080	stop gained	T/A	snv			1
rs137853269	PHEX	1.000	0.200	X	22047116	missense variant	G/A	snv			1
rs1556010757	PHEX	1.000	0.200	X	22033080	frameshift variant	-/T	delins			1
rs1556012055	PHEX	1.000	0.200	X	22038466	splice region variant	C/G	snv			1
rs1556012094	PHEX	1.000	0.200	X	22038536	splice donor variant	G/-	delins			1
rs1556012100	PHEX	1.000	0.200	X	22038538	splice donor variant	G/A;T	snv			1
rs1556014263	PHEX	1.000	0.200	X	22047092	missense variant	G/T	snv			1
rs1556014287	PHEX	1.000	0.200	X	22047115	missense variant	T/C	snv			1
rs1556020460	PHEX	1.000	0.200	X	22076453	missense variant	T/A	snv			1
rs1556020474	PHEX	1.000	0.200	X	22076462	frameshift variant	T/-	del			1