DisGeNET - a database of gene-disease associations

List of associated variants

Diabetes, C0011847

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
rs950561906	SDS	0.925	0.120	12	113398775	missense variant	T/C	snv	8.0E-06	7.0E-06	3
rs7080536	HABP2 ; NRAP	0.683	0.360	10	113588287	missense variant	G/A	snv	2.2E-02	2.4E-02	27
rs2476601	AP4B1-AS1 ; PTPN22	0.498	0.800	1	113834946	missense variant	A/G	snv	0.93	0.93	121
rs17137004	FOXP2	1.000	0.040	7	114389196	intron variant	A/G	snv		0.38	2
rs55758736	BLK	0.851	0.120	8	11548067	missense variant	G/A	snv	1.2E-02	1.5E-02	5
rs1060366	ATP1A1	1.000	0.040	1	116384040	synonymous variant	A/G	snv	1.3E-03	1.4E-03	2
rs964184	ZPR1	0.716	0.440	11	116778201	3 prime UTR variant	G/C	snv		0.82	47
rs3135506	APOA5	0.708	0.400	11	116791691	missense variant	G/A;C	snv	3.0E-05; 6.8E-02		26
rs662799	APOA5	0.689	0.480	11	116792991	upstream gene variant	G/A	snv		0.90	33
rs2854117	APOC3	0.851	0.200	11	116829426	upstream gene variant	T/A;C	snv			6
rs5128	APOC3	0.925	0.080	11	116832924	3 prime UTR variant	G/C	snv	0.84	0.87	8
rs905283251	RFX6	0.925	0.080	6	116919243	stop gained	C/T	snv	4.0E-06	2.8E-05	3
rs7115242	SIK3	0.851	0.120	11	117037567	intron variant	A/G;T	snv			16
rs4876369	SLC30A8 ; LOC105375716	0.882	0.120	8	117151265	intron variant	A/G	snv		0.10	4
rs13266634	SLC30A8 ; LOC105375716	0.724	0.480	8	117172544	missense variant	C/A;T	snv	0.29		23
rs75541969	CFTR	0.827	0.200	7	117614699	missense variant	G/C	snv	4.0E-04	3.2E-04	9
rs5030717	TLR4	0.807	0.240	9	117711556	intron variant	A/G	snv		0.13	9
rs4986790	TLR4	0.438	0.800	9	117713024	missense variant	A/G;T	snv	6.1E-02; 4.0E-06		223
rs4986791	TLR4	0.456	0.840	9	117713324	missense variant	C/T	snv	5.7E-02	4.9E-02	182
rs5030718	TLR4	0.827	0.200	9	117713548	stop gained	G/A;T	snv	3.1E-03; 8.0E-06		8
rs7973260	KSR2	0.851	0.120	12	117937681	intron variant	A/G	snv		0.83	7
rs397507444	MTHFR	0.405	0.880	1	11794407	missense variant	T/G	snv			306
rs1801131	MTHFR	0.535	0.840	1	11794419	missense variant	T/G	snv	0.29	0.26	93
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs1801133	MTHFR	0.472	0.880	1	11796321	missense variant	G/A	snv	0.31	0.27	174