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
rs3732581	PARL	0.790	0.120	3	183840614	missense variant	C/G;T	snv	0.46; 1.2E-05		9
rs1057515572	PMS2	0.882	0.200	7	5987033	frameshift variant	GC/ACT	delins			8
rs628031	SLC22A1	0.807	0.280	6	160139813	missense variant	A/C;G	snv	5.3E-05; 0.63		8
rs2066808	STAT2	0.807	0.280	12	56344189	intron variant	A/G	snv		0.21	8
rs121909731	GLUD1	0.851	0.120	10	87057692	missense variant	G/A;C	snv	4.0E-06		7
rs11171806	IL23A	0.807	0.360	12	56339747	synonymous variant	G/A	snv	4.9E-02	4.5E-02	7
rs1033656351	P2RX4	0.827	0.160	12	121232997	missense variant	G/A	snv	1.6E-05	2.8E-05	7
rs683369	SLC22A1	0.807	0.360	6	160130172	missense variant	G/A;C;T	snv	4.0E-06; 0.83; 4.0E-06		7
rs2920502	PPARG	0.851	0.160	3	12287696	intron variant	G/C	snv		0.27	6
rs146488435	KCNH6	0.851	0.080	17	63533914	missense variant	C/G;T	snv	8.0E-06; 6.4E-05		5
rs9402571		0.882	0.080	6	134167822	downstream gene variant	T/G	snv		0.22	4
rs2014355	ACADS	0.925	0.120	12	120737721	non coding transcript exon variant	T/C	snv		0.22	4
rs121909730	GLUD1	0.882	0.040	10	87053380	missense variant	G/A	snv			4
rs1057518775	KCNJ11	0.851	0.160	11	17387907	missense variant	G/A;C	snv			4
rs79874540	PSMD1 ; HTR2B	0.925	0.080	2	231123707	stop gained	G/A	snv	1.5E-03	1.2E-03	4
rs1003887	INSL3	0.882	0.240	19	17816591	3 prime UTR variant	C/T	snv		0.69	3
rs121913564	MC4R	0.882	0.080	18	60371403	missense variant	A/C	snv	2.0E-05	1.4E-05	3
rs35568725	PLIN2	0.925	0.080	9	19119676	missense variant	A/G	snv	4.1E-02	4.0E-02	3
rs146695489	ABCC8	0.925	0.160	11	17470170	missense variant	T/C	snv	2.5E-04	5.6E-05	2
rs9997745	ACSL1	0.925	0.040	4	184816689	intron variant	G/A	snv		0.25	2
rs4629571	CERT1 ; HMGCR	0.925	0.160	5	75362479	intron variant	A/G	snv		8.7E-02	2
rs225017	DIO2	0.925	0.080	14	80200883	3 prime UTR variant	A/T	snv		0.58	2
rs193922479	HNF4A	0.925	0.080	20	44424116	missense variant	C/A;T	snv	8.0E-06	7.0E-06	2