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
rs6708316	LPIN1	0.925	0.080	2	11797032	intron variant	G/C;T	snv			2
rs9997745	ACSL1	0.925	0.040	4	184816689	intron variant	G/A	snv		0.25	2
rs1016862	MC4R	1.000	0.040	18	60371844	missense variant	A/C	snv			1
rs866477740	SPSB3 ; IGFALS	1.000	0.040	16	1792152	missense variant	A/G	snv			1
rs121909731	GLUD1	0.851	0.120	10	87057692	missense variant	G/A;C	snv	4.0E-06		7
rs1718119	LOC105370032 ; P2RX7	0.689	0.520	12	121177300	missense variant	G/A;T	snv	0.35; 4.0E-06		21
rs683369	SLC22A1	0.807	0.360	6	160130172	missense variant	G/A;C;T	snv	4.0E-06; 0.83; 4.0E-06		7
rs1232898090	PPARA	0.637	0.600	22	46198429	missense variant	G/C;T	snv	4.0E-06; 4.0E-06		40
rs746906443	MC4R	0.925	0.080	18	60371868	missense variant	A/G	snv	4.0E-06		2
rs587777260	TBC1D4	0.925	0.080	13	75359852	stop gained	G/A;T	snv	4.0E-06		2
rs78311289	FGFR3	0.689	0.440	4	1806162	missense variant	A/C;G	snv	4.0E-06		25
rs1316381133	MC4R	1.000	0.040	18	60371445	missense variant	T/A	snv	8.0E-06		1
rs2241766	ADIPOQ ; ADIPOQ-AS1	0.608	0.720	3	186853103	synonymous variant	T/C;G	snv	8.0E-06; 0.13		48
rs146488435	KCNH6	0.851	0.080	17	63533914	missense variant	C/G;T	snv	8.0E-06; 6.4E-05		5
rs80356814	LMNA	0.732	0.320	1	156138697	synonymous variant	C/T	snv	8.0E-06		15
rs193922479	HNF4A	0.925	0.080	20	44424116	missense variant	C/A;T	snv	8.0E-06	7.0E-06	2
rs3732581	PARL	0.790	0.120	3	183840614	missense variant	C/G;T	snv	0.46; 1.2E-05		9
rs373115603	SDS	1.000	0.040	12	113398557	missense variant	G/A	snv	1.3E-05	2.1E-05	1
rs1033656351	P2RX4	0.827	0.160	12	121232997	missense variant	G/A	snv	1.6E-05	2.8E-05	7
rs776234219	IGF1 ; LINC02456	1.000	0.040	12	102419531	missense variant	G/A	snv	1.6E-05	3.5E-05	1
rs121913564	MC4R	0.882	0.080	18	60371403	missense variant	A/C	snv	2.0E-05	1.4E-05	3
rs628031	SLC22A1	0.807	0.280	6	160139813	missense variant	A/C;G	snv	5.3E-05; 0.63		8
rs146695489	ABCC8	0.925	0.160	11	17470170	missense variant	T/C	snv	2.5E-04	5.6E-05	2
rs79874540	PSMD1 ; HTR2B	0.925	0.080	2	231123707	stop gained	G/A	snv	1.5E-03	1.2E-03	4
rs268	LPL	0.637	0.480	8	19956018	missense variant	A/G	snv	1.3E-02	1.3E-02	41