DisGeNET - a database of gene-disease associations

List of associated variants

Hypoglycemia, C0020615

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
rs121909730	GLUD1	0.882	0.040	10	87053380	missense variant	G/A	snv			4
rs386834264	CACNA1D	0.925	0.040	3	53673804	missense variant	G/A	snv			2
rs1208845035	GCK	1.000	0.040	7	44145270	missense variant	G/A	snv			1
rs1344172059	ABCC8	0.882	0.080	11	17430838	missense variant	C/T	snv		7.0E-06	12
rs1272388614	ABCC8	0.851	0.080	11	17395658	missense variant	C/T	snv	2.4E-05	3.5E-05	5
rs146488435	KCNH6	0.851	0.080	17	63533914	missense variant	C/G;T	snv	8.0E-06; 6.4E-05		5
rs373345919	G6PC	0.882	0.080	17	42909364	stop gained	C/T	snv	2.8E-05	2.8E-05	5
rs1799822	CPT2	0.925	0.080	1	53213557	missense variant	A/G	snv	0.16	0.15	4
rs121918188	FBP1	0.925	0.080	9	94609998	missense variant	C/T	snv	2.4E-05	7.0E-06	2
rs146036912	HADH	0.925	0.080	4	108027727	missense variant	T/C	snv	6.8E-05	9.8E-05	2
rs2289669	LOC105371578 ; SLC47A1	0.925	0.080	17	19560030	intron variant	G/A	snv		0.32	2
rs1383147053	DLD	0.882	0.120	7	107901762	missense variant	G/A	snv			4
rs121434278	ACADM	0.882	0.120	1	75740094	missense variant	G/A	snv	4.0E-05	7.0E-05	3
rs1446306735	ABCC8	0.882	0.120	11	17395664	missense variant	C/A;T	snv			3
rs141322087	ABCC8	0.851	0.160	11	17404552	missense variant	C/T	snv	1.2E-05	2.1E-05	13
rs137852671	ABCC8	0.790	0.160	11	17394295	missense variant	C/T	snv			10
rs1057518775	KCNJ11	0.851	0.160	11	17387907	missense variant	G/A;C	snv			4
rs1799958	ACADS	0.882	0.160	12	120738280	missense variant	G/A	snv	0.26	0.21	4
rs781007453	INSR	0.925	0.160	19	7184524	missense variant	G/A;C	snv	8.0E-06; 4.0E-06		2
rs757075712	TFAM	0.763	0.200	10	58390856	missense variant	C/T	snv	1.6E-05	1.4E-05	15
rs1799821	CPT2	0.827	0.200	1	53210776	missense variant	G/A	snv	0.49	0.46	8
rs137853238	HNF1A	0.807	0.200	12	120994265	missense variant	G/A	snv			6
rs74315293	CPT2	0.851	0.200	1	53213509	missense variant	C/T	snv	2.4E-05	1.4E-05	5
rs146539065	SEPSECS	0.752	0.240	4	25145092	synonymous variant	C/T	snv	2.8E-05	4.2E-05	34
rs776969714	SEPSECS	0.752	0.240	4	25145129	splice acceptor variant	-/C	delins		4.2E-05	34