DisGeNET - a database of gene-disease associations

List of associated variants

Diabetic Nephropathy, C0011881

Source: ALL

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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
rs852426	ACTB	0.882	0.240	7	5526722	downstream gene variant	C/T	snv		0.39	5
rs2966449	ACTB	0.925	0.160	7	5531994	intron variant	C/T	snv		0.41	2
rs266729	ADIPOQ	0.637	0.560	3	186841685	upstream gene variant	C/A;G;T	snv			37
rs182052	ADIPOQ	0.701	0.440	3	186842993	intron variant	G/A	snv		0.38	19
rs17300539	ADIPOQ	0.752	0.320	3	186841671	upstream gene variant	G/A	snv		5.3E-02	11
rs2082940	ADIPOQ-AS1 ; ADIPOQ	0.763	0.480	3	186856375	3 prime UTR variant	T/A;C	snv			10
rs2241767	ADIPOQ-AS1 ; ADIPOQ	0.763	0.440	3	186853407	intron variant	A/G	snv		0.10	10
rs1063537	ADIPOQ-AS1 ; ADIPOQ	0.807	0.320	3	186856286	3 prime UTR variant	C/T	snv		9.6E-02	6
rs1501299	ADIPOQ ; ADIPOQ-AS1	0.597	0.720	3	186853334	intron variant	G/C;T	snv			52
rs2241766	ADIPOQ ; ADIPOQ-AS1	0.608	0.720	3	186853103	synonymous variant	T/C;G	snv	8.0E-06; 0.13		48
rs2070600	AGER	0.561	0.760	6	32183666	missense variant	C/T	snv	5.3E-02	3.6E-02	82
rs184003	AGER	0.724	0.400	6	32182519	intron variant	C/A	snv	0.12	0.12	15
rs1800625	AGER ; PBX2	0.641	0.680	6	32184665	upstream gene variant	A/G	snv		0.15	39
rs699	AGT	0.501	0.800	1	230710048	missense variant	A/G	snv	0.55	0.58	134
rs4762	AGT	0.637	0.440	1	230710231	missense variant	G/A	snv	0.12	0.11	35
rs1177506410	AGT	0.776	0.240	1	230706148	missense variant	G/C	snv	4.0E-06	7.0E-06	12
rs1275805226	AGT	0.776	0.240	1	230706148	frameshift variant	G/-	del		7.0E-06	12
rs5186	AGTR1	0.630	0.560	3	148742201	3 prime UTR variant	A/C	snv	0.23	0.21	38
rs759853	AKR1B1	0.827	0.320	7	134459206	non coding transcript exon variant	G/A	snv		0.33	6