DisGeNET - a database of gene-disease associations

List of associated variants

Hyperinsulinism, C0020459

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
rs699	AGT	0.501	0.800	1	230710048	missense variant	A/G	snv	0.55	0.58	134
rs1801282	PPARG	0.500	0.840	3	12351626	missense variant	C/G	snv	0.11	8.9E-02	131
rs2476601	AP4B1-AS1 ; PTPN22	0.498	0.800	1	113834946	missense variant	A/G	snv	0.93	0.93	121
rs1805192	PPARG	0.510	0.840	3	12379739	missense variant	C/G	snv			121
rs9939609	FTO	0.559	0.720	16	53786615	intron variant	T/A	snv		0.41	98
rs1042714	ADRB2	0.597	0.640	5	148826910	stop gained	G/C;T	snv	0.68		54
rs56149945	NR3C1	0.595	0.680	5	143399752	missense variant	T/A;C	snv	2.0E-02		49
rs2241766	ADIPOQ ; ADIPOQ-AS1	0.608	0.720	3	186853103	synonymous variant	T/C;G	snv	8.0E-06; 0.13		48
rs886041065	ASXL2	0.677	0.600	2	25743913	frameshift variant	G/-	delins			43
rs268	LPL	0.637	0.480	8	19956018	missense variant	A/G	snv	1.3E-02	1.3E-02	41
rs1232898090	PPARA	0.637	0.600	22	46198429	missense variant	G/C;T	snv	4.0E-06; 4.0E-06		40
rs266729	ADIPOQ	0.637	0.560	3	186841685	upstream gene variant	C/A;G;T	snv			37
rs1799883	FABP2	0.658	0.440	4	119320747	missense variant	T/A;C;G	snv	0.73		36
rs17782313		0.683	0.480	18	60183864	intergenic variant	T/C	snv		0.24	34
rs11575937	LMNA	0.653	0.480	1	156136985	missense variant	G/A;T	snv			29
rs8192678	PPARGC1A	0.667	0.440	4	23814039	missense variant	C/T	snv	0.31	0.26	28
rs78311289	FGFR3	0.689	0.440	4	1806162	missense variant	A/C;G	snv	4.0E-06		25
rs13266634	SLC30A8 ; LOC105375716	0.724	0.480	8	117172544	missense variant	C/A;T	snv	0.29		23
rs225014	DIO2	0.695	0.400	14	80203237	missense variant	T/C	snv	0.41	0.39	22
rs1718119	LOC105370032 ; P2RX7	0.689	0.520	12	121177300	missense variant	G/A;T	snv	0.35; 4.0E-06		21
rs2943641		0.763	0.160	2	226229029	intergenic variant	T/C	snv		0.67	18
rs80356814	LMNA	0.732	0.320	1	156138697	synonymous variant	C/T	snv	8.0E-06		15
rs12970134		0.790	0.280	18	60217517	intergenic variant	G/A	snv		0.21	13
rs10423928	GIPR	0.807	0.200	19	45679046	intron variant	T/A	snv		0.19	12
rs5742612	LOC105369944 ; IGF1	0.752	0.440	12	102481086	intron variant	A/G	snv		5.6E-02	11