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
rs237025	SUMO4 ; TAB2	0.672	0.360	6	149400554	missense variant	G/A	snv	0.55	0.57	26
rs12976445	SPACA6 ; SPACA6P-AS ; MIRLET7E ; MIR125A	0.689	0.600	19	51693200	non coding transcript exon variant	T/C	snv		0.45	20
rs11915160	SOX2 ; SOX2-OT	0.851	0.200	3	181713783	3 prime UTR variant	C/A	snv		0.11	5
rs1326934	SORBS1	0.925	0.200	10	95524324	intron variant	C/T	snv		0.63	2
rs4880	SOD2	0.500	0.840	6	159692840	missense variant	A/G	snv	0.48	0.47	131
rs2234694	SOD1	0.882	0.240	21	31666552	intron variant	A/C	snv	3.6E-02	3.4E-02	3
rs6997279	SLC30A8	0.882	0.160	8	116961613	intron variant	G/T	snv		0.20	3
rs3820589	SLC2A1 ; SLC2A1-AS1	0.925	0.200	1	42960373	intron variant	A/T	snv		8.3E-02	2
rs710218	SLC2A1-AS1	0.882	0.280	1	42961547	intron variant	T/A	snv		0.38	5
rs841853	SLC2A1	0.882	0.200	1	42935767	intron variant	A/C	snv		0.66	4
rs2457576	SLC22A3	0.925	0.200	6	160444587	intron variant	G/C	snv		0.27	2
rs316019	SLC22A2	0.790	0.360	6	160249250	missense variant	A/C	snv	0.90	0.89	8
rs11643718	SLC12A3	0.807	0.240	16	56899607	missense variant	G/A	snv	0.11	8.4E-02	10
rs745452033	SLC12A3	0.925	0.160	16	56865465	missense variant	G/C	snv	4.0E-06	7.0E-06	2
rs3818292	SIRT1	0.827	0.280	10	67907144	intron variant	A/G	snv		7.1E-02	5
rs10823108	SIRT1	0.925	0.160	10	67900736	intron variant	G/A	snv		7.1E-02	2
rs5749286	SFI1 ; DRG1	1.000	0.120	22	31504373	intron variant	C/A;T	snv			1
rs11645214	SF3B3	1.000	0.120	16	70575084	3 prime UTR variant	A/G	snv		0.39	1
rs2229569	SELL ; C1orf112	0.790	0.360	1	169704697	missense variant	G/A;T	snv	0.21; 3.2E-05		8
rs34713741	SELENOS	0.882	0.280	15	101277671	upstream gene variant	C/A;T	snv		0.24	3
rs6930576	SASH1	1.000	0.120	6	148383818	intron variant	G/A	snv		0.36	1
rs7211818	RPTOR	0.827	0.200	17	80715103	intron variant	A/G	snv		0.23	5
rs7212142	RPTOR	0.827	0.200	17	80650141	intron variant	G/A	snv		0.50	5
rs9674559	RPTOR	0.925	0.160	17	80741808	intron variant	A/G	snv		0.22	2
rs1531343	RPSAP52	0.925	0.160	12	65781114	intron variant	G/C;T	snv			2