DisGeNET - a database of gene-disease associations

Source: ALL

Variants associated to the Disease: Diabetic Nephropathy ×

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
rs1267969615	ACE	0.532	0.760	17	63490960	missense variant	T/C	snv	4.0E-06		100
rs1799752	ACE	0.677	0.480	17	63488529	intron variant	-/TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT	delins			25
rs4311	ACE	0.882	0.200	17	63483402	intron variant	T/C	snv		0.60	3
rs1157043147	ACE	1.000	0.120	17	63477150	missense variant	T/C	snv		2.8E-05	1
rs1341633213	ACE	1.000	0.120	17	63496422	stop gained	C/T	snv	4.0E-06		1
rs4366	ACE	1.000	0.120	17	63498094	3 prime UTR variant	CT/-;CTCT	delins			1