DisGeNET - a database of gene-disease associations

List of associated variants

Hyperphosphatasia with Mental Retardation, C1855923

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
rs139073416	PIGV	0.882	0.240	1	26795056	missense variant	C/A;T	snv	1.2E-04		9
rs587776970	PGAP2	0.925	0.240	11	3824025	missense variant	C/T	snv	4.0E-06		2
rs780188037	PGAP2	0.925	0.240	11	3824330	missense variant	C/T	snv	3.2E-05	2.1E-05	2
rs879255233	PGAP2	0.925	0.240	11	3824097	missense variant	T/C	snv			2
rs774508288	PIGO	0.925	0.240	9	35092076	frameshift variant	-/G	delins		1.5E-04	2
rs1456496219	PIGN	1.000	0.240	18	62157191	missense variant	A/G	snv		7.0E-06	1
rs140470862	PIGO	1.000	0.240	9	35091456	missense variant	G/A;C	snv	3.2E-05		1
rs1450982775	PIGV	1.000	0.240	1	26794414	missense variant	T/C	snv	4.0E-06		1