DisGeNET - a database of gene-disease associations

Source: BEFREE

Variants associated to the Gene: ACE2 ×

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
rs2074192	ACE2	0.827	0.160	X	15564667	intron variant	C/T	snv		0.40	9
rs2106809	ACE2	0.827	0.120	X	15599938	intron variant	A/G	snv		0.19	8
rs762890235	ACE2	0.827	0.240	X	15578220	missense variant	G/T	snv	3.8E-05	9.5E-06	5
rs6632677	ACE2	0.851	0.120	X	15596749	intron variant	G/C	snv		5.0E-03	4
rs4240157	ACE2	0.925	0.080	X	15568841	intron variant	C/T	snv			4
rs879922	ACE2	0.882	0.160	X	15572684	intron variant	C/G	snv			4
rs2285666	ACE2	0.925	0.160	X	15592225	splice region variant	C/T	snv	6.2E-06; 0.28	0.23	4
rs4646188	ACE2	0.925	0.120	X	15583220	intron variant	A/G	snv		9.1E-02	4
rs4830542	ACE2	0.925	0.080	X	15558483	downstream gene variant	C/G;T	snv			3
rs4646155	ACE2	0.925	0.080	X	15579386	intron variant	C/T	snv		3.9E-02	3
rs1514280	ACE2	1.000		X	15568325	intron variant	A/G	snv			3
rs4646156	ACE2			X	15578920	intron variant	A/T	snv			2
rs1978124	ACE2			X	15599940	intron variant	T/A;C	snv			2
rs16979956	BMX ; ACE2			X	15525068	intron variant	C/T	snv		4.0E-04	2
rs35697037	BMX ; ACE2			X	15523993	intron variant	G/A	snv		0.37	2
rs2048683	ACE2	1.000	0.040	X	15590376	intron variant	T/G	snv			1
rs4646142	ACE2			X	15584941	intron variant	G/A;C	snv			1
rs233575	ACE2			X	15564843	intron variant	G/A	snv			1