DisGeNET - a database of gene-disease associations

Source: CURATED

Variants associated to the Disease: Adult hypophosphatasia (disorder) ×

Variants associated to the Gene: ALPL ×

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
rs149344982	ALPL	1.000	0.080	1	21563267	missense variant	G/A	snv	1.2E-02	8.6E-03	1
rs121918007	ALPL	0.851	0.080	1	21564139	missense variant	G/A;C	snv	2.4E-03; 4.0E-06		4
rs121918011	ALPL	0.851	0.080	1	21563219	missense variant	G/A;C	snv	1.4E-04		4
rs199669988	ALPL	0.882	0.080	1	21564097	missense variant	G/A	snv	1.3E-04	3.5E-05	3
rs121918019	ALPL	0.882	0.080	1	21564094	missense variant	G/A;C	snv	9.2E-05		3
rs150799088	ALPL	0.925	0.080	1	21577422	missense variant	G/A	snv	7.7E-05	7.0E-06	1
rs121918010	ALPL	0.827	0.200	1	21573781	missense variant	T/C	snv	7.2E-05	4.2E-05	3
rs780583917	ALPL	1.000	0.080	1	21563213	missense variant	C/A	snv	5.2E-05	6.3E-05	1
rs199590449	ALPL	0.925	0.080	1	21564110	missense variant	C/T	snv	4.0E-05	7.0E-06	2
rs121918002	ALPL	0.851	0.080	1	21573683	missense variant	A/C	snv	3.6E-05	7.0E-05	4
rs121918014	ALPL	0.827	0.120	1	21576582	missense variant	A/G	snv	2.0E-05	5.6E-05	3
rs138690664	ALPL	0.851	0.120	1	21577421	missense variant	C/G;T	snv	1.6E-05	3.5E-05	1
rs760029254	ALPL	1.000	0.080	1	21564052	missense variant	G/A	snv	1.6E-05		1
rs121918018	ALPL	0.882	0.120	1	21568201	missense variant	G/C;T	snv	1.6E-05; 4.0E-06		3
rs199665722	ALPL	0.925	0.080	1	21568123	missense variant	G/A	snv	1.6E-05	7.0E-06	2
rs121918003	ALPL	0.925	0.080	1	21561127	missense variant	G/A;C	snv	4.0E-06; 1.2E-05		2
rs121918000	ALPL	0.925	0.080	1	21564103	missense variant	G/A	snv	1.2E-05		2
rs763159520	ALPL	0.925	0.080	1	21564118	missense variant	C/T	snv	1.2E-05	7.0E-06	2
rs770093969	ALPL	1.000	0.080	1	21560683	missense variant	C/G;T	snv	4.0E-06; 1.2E-05		1
rs371243939	ALPL	0.882	0.080	1	21575906	missense variant	C/T	snv	1.2E-05	1.4E-05	3
rs121918005	ALPL	0.925	0.080	1	21560662	missense variant	C/G;T	snv	4.0E-06; 1.2E-05		2
rs1413274209	ALPL	0.882	0.080	1	21577544	missense variant	G/A	snv	8.3E-06	2.1E-05	3
rs765458125	ALPL	1.000	0.080	1	21573676	missense variant	C/A;T	snv	8.0E-06; 4.0E-06		1
rs773257111	ALPL	1.000	0.080	1	21563143	missense variant	G/A	snv	8.0E-06	7.0E-06	1
rs1220125702	ALPL	1.000	0.080	1	21573686	missense variant	T/C	snv	8.0E-06	7.0E-06	1