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
rs137852671	ABCC8	0.790	0.160	11	17394295	missense variant	C/T	snv			10
rs587777732	MIR3646 ; HNF4A	0.763	0.240	20	44406195	missense variant	C/T	snv			9
rs1003887	INSL3	0.882	0.240	19	17816591	3 prime UTR variant	C/T	snv		0.69	3
rs4925663	OR2B11	0.925	0.040	1	247451315	missense variant	C/T	snv	0.41	0.35	2
rs886041065	ASXL2	0.677	0.600	2	25743913	frameshift variant	G/-	delins			43
rs12970134		0.790	0.280	18	60217517	intergenic variant	G/A	snv		0.21	13
rs1033656351	P2RX4	0.827	0.160	12	121232997	missense variant	G/A	snv	1.6E-05	2.8E-05	7
rs11171806	IL23A	0.807	0.360	12	56339747	synonymous variant	G/A	snv	4.9E-02	4.5E-02	7
rs121909730	GLUD1	0.882	0.040	10	87053380	missense variant	G/A	snv			4
rs79874540	PSMD1 ; HTR2B	0.925	0.080	2	231123707	stop gained	G/A	snv	1.5E-03	1.2E-03	4
rs12143966	NLRP3	1.000	0.040	1	247438055	intron variant	G/A	snv		0.33	2
rs9997745	ACSL1	0.925	0.040	4	184816689	intron variant	G/A	snv		0.25	2
rs373115603	SDS	1.000	0.040	12	113398557	missense variant	G/A	snv	1.3E-05	2.1E-05	1
rs776234219	IGF1 ; LINC02456	1.000	0.040	12	102419531	missense variant	G/A	snv	1.6E-05	3.5E-05	1
rs121909731	GLUD1	0.851	0.120	10	87057692	missense variant	G/A;C	snv	4.0E-06		7
rs1057518775	KCNJ11	0.851	0.160	11	17387907	missense variant	G/A;C	snv			4
rs683369	SLC22A1	0.807	0.360	6	160130172	missense variant	G/A;C;T	snv	4.0E-06; 0.83; 4.0E-06		7
rs11575937	LMNA	0.653	0.480	1	156136985	missense variant	G/A;T	snv			29
rs1718119	LOC105370032 ; P2RX7	0.689	0.520	12	121177300	missense variant	G/A;T	snv	0.35; 4.0E-06		21
rs587777260	TBC1D4	0.925	0.080	13	75359852	stop gained	G/A;T	snv	4.0E-06		2
rs33997857	LPIN1	1.000	0.040	2	11787112	missense variant	G/A;T	snv	1.6E-02		1
rs2920502	PPARG	0.851	0.160	3	12287696	intron variant	G/C	snv		0.27	6
rs1042714	ADRB2	0.597	0.640	5	148826910	stop gained	G/C;T	snv	0.68		54
rs1232898090	PPARA	0.637	0.600	22	46198429	missense variant	G/C;T	snv	4.0E-06; 4.0E-06		40
rs6708316	LPIN1	0.925	0.080	2	11797032	intron variant	G/C;T	snv			2