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
rs1805192	PPARG	0.510	0.840	3	12379739	missense variant	C/G	snv			121
rs193922479	HNF4A	0.925	0.080	20	44424116	missense variant	C/A;T	snv	8.0E-06	7.0E-06	2
rs2014355	ACADS	0.925	0.120	12	120737721	non coding transcript exon variant	T/C	snv		0.22	4
rs2066808	STAT2	0.807	0.280	12	56344189	intron variant	A/G	snv		0.21	8
rs2241766	ADIPOQ ; ADIPOQ-AS1	0.608	0.720	3	186853103	synonymous variant	T/C;G	snv	8.0E-06; 0.13		48
rs225014	DIO2	0.695	0.400	14	80203237	missense variant	T/C	snv	0.41	0.39	22
rs225017	DIO2	0.925	0.080	14	80200883	3 prime UTR variant	A/T	snv		0.58	2
rs2288377	LOC105369944 ; IGF1	0.925	0.080	12	102480984	intron variant	A/G;T	snv			2
rs2476601	AP4B1-AS1 ; PTPN22	0.498	0.800	1	113834946	missense variant	A/G	snv	0.93	0.93	121
rs266729	ADIPOQ	0.637	0.560	3	186841685	upstream gene variant	C/A;G;T	snv			37
rs268	LPL	0.637	0.480	8	19956018	missense variant	A/G	snv	1.3E-02	1.3E-02	41
rs2918419	NR3C1	0.925	0.040	5	143342788	intron variant	T/C	snv		0.15	2
rs2920502	PPARG	0.851	0.160	3	12287696	intron variant	G/C	snv		0.27	6
rs2943641		0.763	0.160	2	226229029	intergenic variant	T/C	snv		0.67	18
rs33997857	LPIN1	1.000	0.040	2	11787112	missense variant	G/A;T	snv	1.6E-02		1
rs35568725	PLIN2	0.925	0.080	9	19119676	missense variant	A/G	snv	4.1E-02	4.0E-02	3
rs373115603	SDS	1.000	0.040	12	113398557	missense variant	G/A	snv	1.3E-05	2.1E-05	1
rs3732581	PARL	0.790	0.120	3	183840614	missense variant	C/G;T	snv	0.46; 1.2E-05		9
rs4629571	CERT1 ; HMGCR	0.925	0.160	5	75362479	intron variant	A/G	snv		8.7E-02	2
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
rs5742612	LOC105369944 ; IGF1	0.752	0.440	12	102481086	intron variant	A/G	snv		5.6E-02	11
rs587777260	TBC1D4	0.925	0.080	13	75359852	stop gained	G/A;T	snv	4.0E-06		2
rs587777732	MIR3646 ; HNF4A	0.763	0.240	20	44406195	missense variant	C/T	snv			9
rs628031	SLC22A1	0.807	0.280	6	160139813	missense variant	A/C;G	snv	5.3E-05; 0.63		8