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
rs587777260	TBC1D4	0.925	0.080	13	75359852	stop gained	G/A;T	snv	4.0E-06		2
rs2066808	STAT2	0.807	0.280	12	56344189	intron variant	A/G	snv		0.21	8
rs866477740	SPSB3 ; IGFALS	1.000	0.040	16	1792152	missense variant	A/G	snv			1
rs13266634	SLC30A8 ; LOC105375716	0.724	0.480	8	117172544	missense variant	C/A;T	snv	0.29		23
rs628031	SLC22A1	0.807	0.280	6	160139813	missense variant	A/C;G	snv	5.3E-05; 0.63		8
rs683369	SLC22A1	0.807	0.360	6	160130172	missense variant	G/A;C;T	snv	4.0E-06; 0.83; 4.0E-06		7
rs373115603	SDS	1.000	0.040	12	113398557	missense variant	G/A	snv	1.3E-05	2.1E-05	1
rs79874540	PSMD1 ; HTR2B	0.925	0.080	2	231123707	stop gained	G/A	snv	1.5E-03	1.2E-03	4
rs8192678	PPARGC1A	0.667	0.440	4	23814039	missense variant	C/T	snv	0.31	0.26	28
rs1801282	PPARG	0.500	0.840	3	12351626	missense variant	C/G	snv	0.11	8.9E-02	131
rs1805192	PPARG	0.510	0.840	3	12379739	missense variant	C/G	snv			121
rs2920502	PPARG	0.851	0.160	3	12287696	intron variant	G/C	snv		0.27	6
rs1232898090	PPARA	0.637	0.600	22	46198429	missense variant	G/C;T	snv	4.0E-06; 4.0E-06		40
rs1057515572	PMS2	0.882	0.200	7	5987033	frameshift variant	GC/ACT	delins			8
rs35568725	PLIN2	0.925	0.080	9	19119676	missense variant	A/G	snv	4.1E-02	4.0E-02	3
rs3732581	PARL	0.790	0.120	3	183840614	missense variant	C/G;T	snv	0.46; 1.2E-05		9
rs1033656351	P2RX4	0.827	0.160	12	121232997	missense variant	G/A	snv	1.6E-05	2.8E-05	7
rs4925663	OR2B11	0.925	0.040	1	247451315	missense variant	C/T	snv	0.41	0.35	2
rs56149945	NR3C1	0.595	0.680	5	143399752	missense variant	T/A;C	snv	2.0E-02		49
rs2918419	NR3C1	0.925	0.040	5	143342788	intron variant	T/C	snv		0.15	2
rs12143966	NLRP3	1.000	0.040	1	247438055	intron variant	G/A	snv		0.33	2
rs587777732	MIR3646 ; HNF4A	0.763	0.240	20	44406195	missense variant	C/T	snv			9
rs121913564	MC4R	0.882	0.080	18	60371403	missense variant	A/C	snv	2.0E-05	1.4E-05	3
rs746906443	MC4R	0.925	0.080	18	60371868	missense variant	A/G	snv	4.0E-06		2
rs1016862	MC4R	1.000	0.040	18	60371844	missense variant	A/C	snv			1