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
rs1003887	INSL3	0.882	0.240	19	17816591	3 prime UTR variant	C/T	snv		0.69	3
rs1016862	MC4R	1.000	0.040	18	60371844	missense variant	A/C	snv			1
rs1033656351	P2RX4	0.827	0.160	12	121232997	missense variant	G/A	snv	1.6E-05	2.8E-05	7
rs10423928	GIPR	0.807	0.200	19	45679046	intron variant	T/A	snv		0.19	12
rs1042714	ADRB2	0.597	0.640	5	148826910	stop gained	G/C;T	snv	0.68		54
rs1057515572	PMS2	0.882	0.200	7	5987033	frameshift variant	GC/ACT	delins			8
rs1057518775	KCNJ11	0.851	0.160	11	17387907	missense variant	G/A;C	snv			4
rs11171806	IL23A	0.807	0.360	12	56339747	synonymous variant	G/A	snv	4.9E-02	4.5E-02	7
rs11575937	LMNA	0.653	0.480	1	156136985	missense variant	G/A;T	snv			29
rs12143966	NLRP3	1.000	0.040	1	247438055	intron variant	G/A	snv		0.33	2
rs121909730	GLUD1	0.882	0.040	10	87053380	missense variant	G/A	snv			4
rs121909731	GLUD1	0.851	0.120	10	87057692	missense variant	G/A;C	snv	4.0E-06		7
rs121913564	MC4R	0.882	0.080	18	60371403	missense variant	A/C	snv	2.0E-05	1.4E-05	3
rs1232898090	PPARA	0.637	0.600	22	46198429	missense variant	G/C;T	snv	4.0E-06; 4.0E-06		40
rs12970134		0.790	0.280	18	60217517	intergenic variant	G/A	snv		0.21	13
rs1316381133	MC4R	1.000	0.040	18	60371445	missense variant	T/A	snv	8.0E-06		1
rs13266634	SLC30A8 ; LOC105375716	0.724	0.480	8	117172544	missense variant	C/A;T	snv	0.29		23
rs137852671	ABCC8	0.790	0.160	11	17394295	missense variant	C/T	snv			10
rs146488435	KCNH6	0.851	0.080	17	63533914	missense variant	C/G;T	snv	8.0E-06; 6.4E-05		5
rs146695489	ABCC8	0.925	0.160	11	17470170	missense variant	T/C	snv	2.5E-04	5.6E-05	2
rs148969251	ARHGEF12	1.000	0.040	11	120480110	missense variant	A/G	snv	3.3E-02	1.3E-02	1
rs1718119	LOC105370032 ; P2RX7	0.689	0.520	12	121177300	missense variant	G/A;T	snv	0.35; 4.0E-06		21
rs17782313		0.683	0.480	18	60183864	intergenic variant	T/C	snv		0.24	34
rs1799883	FABP2	0.658	0.440	4	119320747	missense variant	T/A;C;G	snv	0.73		36
rs1801282	PPARG	0.500	0.840	3	12351626	missense variant	C/G	snv	0.11	8.9E-02	131