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
rs148969251	ARHGEF12	1.000	0.040	11	120480110	missense variant	A/G	snv	3.3E-02	1.3E-02	1
rs776234219	IGF1 ; LINC02456	1.000	0.040	12	102419531	missense variant	G/A	snv	1.6E-05	3.5E-05	1
rs33997857	LPIN1	1.000	0.040	2	11787112	missense variant	G/A;T	snv	1.6E-02		1
rs1016862	MC4R	1.000	0.040	18	60371844	missense variant	A/C	snv			1
rs1316381133	MC4R	1.000	0.040	18	60371445	missense variant	T/A	snv	8.0E-06		1
rs373115603	SDS	1.000	0.040	12	113398557	missense variant	G/A	snv	1.3E-05	2.1E-05	1
rs866477740	SPSB3 ; IGFALS	1.000	0.040	16	1792152	missense variant	A/G	snv			1
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
rs2288377	LOC105369944 ; IGF1	0.925	0.080	12	102480984	intron variant	A/G;T	snv			2
rs6708316	LPIN1	0.925	0.080	2	11797032	intron variant	G/C;T	snv			2
rs746906443	MC4R	0.925	0.080	18	60371868	missense variant	A/G	snv	4.0E-06		2
rs12143966	NLRP3	1.000	0.040	1	247438055	intron variant	G/A	snv		0.33	2
rs2918419	NR3C1	0.925	0.040	5	143342788	intron variant	T/C	snv		0.15	2
rs4925663	OR2B11	0.925	0.040	1	247451315	missense variant	C/T	snv	0.41	0.35	2
rs587777260	TBC1D4	0.925	0.080	13	75359852	stop gained	G/A;T	snv	4.0E-06		2
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
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