DisGeNET - a database of gene-disease associations

Source: ALL

Variants associated to the Gene: ACE ×

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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
rs4343	ACE	0.742	0.480	17	63488670	synonymous variant	G/A	snv	0.53		14
rs4362	ACE	0.807	0.240	17	63496400	missense variant	T/C;G	snv	0.52; 1.2E-05	0.51	9
rs4363	ACE	1.000	0.080	17	63497131	splice region variant	G/A;C	snv	0.52		2
rs4341	ACE	1.000	0.080	17	63488629	3 prime UTR variant	G/C	snv	0.50		1
rs4331	ACE	1.000	0.040	17	63486691	synonymous variant	A/G	snv	0.50	0.46	1
rs4309	ACE	0.925	0.120	17	63482562	synonymous variant	C/T	snv	0.46	0.36	3
rs4302	ACE	1.000	0.120	17	63480461	synonymous variant	C/T	snv	2.1E-03	8.2E-03	1
rs199591851	ACE	1.000	0.080	17	63481106	missense variant	A/G	snv	7.4E-04	6.8E-04	1
rs34126458	ACE	0.925	0.080	17	63481575	missense variant	G/A;T	snv	3.6E-05; 7.4E-04		2
rs28730839	ACE			17	63483140	missense variant	C/A;G	snv	4.0E-06; 4.8E-04		2
rs12720742	ACE	1.000	0.040	17	63496923	missense variant	C/G;T	snv	2.4E-05; 3.2E-04		1
rs145579007	ACE	0.925	0.080	17	63496503	missense variant	G/A	snv	1.0E-04	1.0E-04	2
rs761401927	ACE	0.882	0.040	17	63488704	missense variant	G/A	snv	9.1E-05		4
rs371131106	ACE	0.925	0.120	17	63485346	missense variant	A/G	snv	8.4E-05	1.6E-04	2
rs143830698	ACE	0.882	0.120	17	63488659	missense variant	G/A	snv	8.4E-05		4
rs775653132	ACE	1.000	0.080	17	63485054	missense variant	G/A	snv	6.7E-05	1.4E-05	1
rs553520266	ACE			17	63479853	missense variant	C/T	snv	4.8E-05	2.1E-05	1
rs568401628	ACE	0.882	0.120	17	63497280	missense variant	C/T	snv	4.5E-05	7.0E-06	4
rs121912703	ACE			17	63496977	missense variant	C/T	snv	3.7E-05	4.9E-05	2
rs746566272	ACE			17	63484889	missense variant	G/A	snv	3.3E-05	7.0E-06	1
rs750712925	ACE	0.925	0.080	17	63477227	missense variant	G/A;C;T	snv	3.2E-05		2
rs142677199	ACE	0.882	0.040	17	63479897	missense variant	G/A;T	snv	3.2E-05		4
rs767425642	ACE	0.882	0.120	17	63489010	missense variant	G/A;T	snv	3.2E-05; 4.0E-06		3
rs147670020	ACE	1.000	0.120	17	63480459	missense variant	C/A;T	snv	8.0E-06; 3.2E-05		1
rs755506668	ACE			17	63496874	missense variant	G/A;T	snv	2.8E-05; 8.0E-06		1