DisGeNET - a database of gene-disease associations

List of associated variants

Diabetic peripheral neuropathy, C0740447

Source: ALL

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
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs16944	IL1B	0.531	0.920	2	112837290	upstream gene variant	A/G	snv		0.57	92
rs2241766	ADIPOQ ; ADIPOQ-AS1	0.608	0.720	3	186853103	synonymous variant	T/C;G	snv	8.0E-06; 0.13		48
rs1001179	CAT	0.641	0.680	11	34438684	upstream gene variant	C/T	snv		0.16	33
rs4673	CYBA	0.653	0.600	16	88646828	missense variant	A/G;T	snv	0.70		32
rs3774261	ADIPOQ ; ADIPOQ-AS1	0.776	0.320	3	186853770	splice region variant	A/G	snv		0.55	10
rs391957	HSPA5 ; LOC107987127	0.763	0.240	9	125241745	non coding transcript exon variant	T/C	snv		0.72	10
rs1041740	SOD1	0.807	0.320	21	31667849	intron variant	C/T	snv		0.24	8
rs759853	AKR1B1	0.827	0.320	7	134459206	non coding transcript exon variant	G/A	snv		0.33	6
rs13417783		0.925	0.120	2	166773339	regulatory region variant	C/T	snv		0.13	3
rs216008	CACNA1C	1.000	0.080	12	2611971	synonymous variant	C/T	snv	0.21	0.21	2
rs3821799	ADIPOQ-AS1 ; ADIPOQ	1.000	0.080	3	186853697	intron variant	T/C	snv		0.50	1
rs2248069	CACNA1A	1.000	0.080	19	13334394	synonymous variant	C/T	snv	0.69	0.64	1
rs2239050	CACNA1C	1.000	0.080	12	2338248	intron variant	G/A;C	snv			1
rs3794619	CACNA1H	1.000	0.080	16	1197482	intron variant	T/C	snv		0.18	1
rs7191246	CACNA1H	1.000	0.080	16	1202737	intron variant	G/C	snv		0.19	1