DisGeNET - a database of gene-disease associations

List of shared variants

Diabetes, C0011847

Disease: Metabolic Syndrome X

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
rs696217	GHRL ; GHRLOS	0.662	0.640	3	10289773	missense variant	G/T	snv	8.8E-02	7.1E-02	32
rs9282541	ABCA1	0.790	0.160	9	104858554	missense variant	G/A	snv	1.3E-02	4.4E-03	13
rs11066001	BRAP	0.763	0.360	12	111681367	intron variant	T/C	snv		5.8E-03	15
rs2230774	ROCK2	0.807	0.240	2	11218994	missense variant	G/C;T	snv	0.49		12
rs11066280	HECTD4	0.742	0.280	12	112379979	intron variant	T/A	snv		7.0E-03	27
rs1800587	IL1A	0.620	0.720	2	112785383	upstream gene variant	G/A;C	snv		0.32	43
rs7903146	TCF7L2	0.554	0.680	10	112998590	intron variant	C/G;T	snv			93
rs12255372	TCF7L2	0.667	0.480	10	113049143	intron variant	G/A;T	snv			28
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
rs5128	APOC3	0.925	0.080	11	116832924	3 prime UTR variant	G/C	snv	0.84	0.87	8
rs13266634	SLC30A8 ; LOC105375716	0.724	0.480	8	117172544	missense variant	C/A;T	snv	0.29		23
rs4986790	TLR4	0.438	0.800	9	117713024	missense variant	A/G;T	snv	6.1E-02; 4.0E-06		223
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
rs5068	NPPA ; NPPA-AS1 ; CLCN6	0.776	0.160	1	11845917	3 prime UTR variant	A/G;T	snv			13
rs1799883	FABP2	0.658	0.440	4	119320747	missense variant	T/A;C;G	snv	0.73		36
rs137853240	HNF1A	0.807	0.080	12	120994405	missense variant	G/A	snv		1.4E-05	8
rs1801282	PPARG	0.500	0.840	3	12351626	missense variant	C/G	snv	0.11	8.9E-02	131
rs1805192	PPARG	0.510	0.840	3	12379739	missense variant	C/G	snv			121
rs3856806	PPARG	0.637	0.440	3	12434058	synonymous variant	C/T	snv	0.13	0.11	41