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
rs9402571		0.882	0.080	6	134167822	downstream gene variant	T/G	snv		0.22	4
rs2241766	ADIPOQ ; ADIPOQ-AS1	0.608	0.720	3	186853103	synonymous variant	T/C;G	snv	8.0E-06; 0.13		48
rs17782313		0.683	0.480	18	60183864	intergenic variant	T/C	snv		0.24	34
rs225014	DIO2	0.695	0.400	14	80203237	missense variant	T/C	snv	0.41	0.39	22
rs2943641		0.763	0.160	2	226229029	intergenic variant	T/C	snv		0.67	18
rs2014355	ACADS	0.925	0.120	12	120737721	non coding transcript exon variant	T/C	snv		0.22	4
rs146695489	ABCC8	0.925	0.160	11	17470170	missense variant	T/C	snv	2.5E-04	5.6E-05	2
rs2918419	NR3C1	0.925	0.040	5	143342788	intron variant	T/C	snv		0.15	2
rs1799883	FABP2	0.658	0.440	4	119320747	missense variant	T/A;C;G	snv	0.73		36
rs56149945	NR3C1	0.595	0.680	5	143399752	missense variant	T/A;C	snv	2.0E-02		49
rs9939609	FTO	0.559	0.720	16	53786615	intron variant	T/A	snv		0.41	98
rs10423928	GIPR	0.807	0.200	19	45679046	intron variant	T/A	snv		0.19	12
rs1316381133	MC4R	1.000	0.040	18	60371445	missense variant	T/A	snv	8.0E-06		1
rs1057515572	PMS2	0.882	0.200	7	5987033	frameshift variant	GC/ACT	delins			8
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
rs2920502	PPARG	0.851	0.160	3	12287696	intron variant	G/C	snv		0.27	6
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
rs683369	SLC22A1	0.807	0.360	6	160130172	missense variant	G/A;C;T	snv	4.0E-06; 0.83; 4.0E-06		7
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