DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variants associated to the Gene: ALG1 ×

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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
rs369160589	ALG1	0.742	0.400	16	5082676	splice region variant	A/G	snv	1.0E-04	1.3E-04	35
rs1555452127	ALG1	0.742	0.400	16	5079078	missense variant	T/C	snv			34
rs1009298200	ALG1	0.742	0.400	16	5079077	missense variant	C/G;T	snv		7.0E-06	34
rs28939378	ALG1	0.925	0.160	16	5078789	missense variant	C/T	snv	3.0E-04	3.5E-04	3
rs746019074	ALG1	1.000	0.080	16	5083744	frameshift variant	-/TG	ins	1.3E-05; 8.5E-06	2.1E-05	2
rs151173406	ALG1	1.000	0.080	16	5078842	missense variant	C/T	snv	8.0E-06	2.8E-05	2
rs374928784	ALG1			16	5082674	splice donor variant	G/A	snv	1.6E-05		1
rs398124348	ALG1	1.000	0.080	16	5082565	missense variant	C/T	snv	4.0E-06	1.4E-05	1
rs794727301	ALG1	1.000	0.080	16	5073004	missense variant	T/G	snv		7.0E-06	1
rs794727073	ALG1			16	5083680	splice acceptor variant	A/G	snv		2.1E-05	1
rs752922461	ALG1			16	5071864	stop gained	C/A;G;T	snv	8.6E-06; 4.3E-06; 2.6E-05		1
rs398124349	ALG1	1.000	0.080	16	5082648	missense variant	C/T	snv			1
rs794726944	ALG1	1.000	0.080	16	5071998	missense variant	A/G	snv	4.6E-06		1
rs267606651	ALG1	1.000	0.080	16	5081009	missense variant	A/C	snv	4.3E-06		1
rs780107088	ALG1	1.000	0.080	16	5073170	stop gained	C/T	snv	1.6E-05	3.5E-05	1
rs387906927	ALG1	1.000	0.080	16	5083682	stop gained	T/A	snv	4.2E-06		1
rs387906925	ALG1	1.000	0.080	16	5082615	missense variant	A/G	snv	4.0E-06	7.0E-06	1
rs201975029	ALG1	1.000	0.080	16	5078843	missense variant	G/A	snv	6.5E-04	4.5E-04	1
rs528261173	ALG1	1.000	0.080	16	5077929	missense variant	C/G;T	snv	8.1E-06; 6.9E-05		1
rs121908340	ALG1	1.000	0.080	16	5075447	missense variant	C/G	snv	4.0E-06	7.0E-06	1
rs768733117	ALG1	1.000	0.080	16	5079062	splice acceptor variant	A/G	snv	1.3E-05		1