DisGeNET - a database of gene-disease associations

List of associated variants

Hypoglycemia, C0020615

Source: CLINVAR ×

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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
rs752298579	TANGO2	0.701	0.480	22	20061538	missense variant	G/A	snv	1.4E-04	7.0E-06	48
rs1557043622	SLC35A2	0.695	0.400	X	48909843	missense variant	C/A	snv			46
rs867410737	ATP5F1D	0.708	0.440	19	1242559	missense variant	C/T	snv	6.7E-06		42
rs587782995	PURA	0.708	0.360	5	140114480	missense variant	T/C	snv			42
rs886039469	KCNMA1-AS1 ; KCNMA1	0.701	0.560	10	76891709	missense variant	T/C	snv			34
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
rs757075712	TFAM	0.763	0.200	10	58390856	missense variant	C/T	snv	1.6E-05	1.4E-05	14
rs141322087	ABCC8	0.851	0.160	11	17404552	missense variant	C/T	snv	1.2E-05	2.1E-05	13
rs28936375	CPT2	0.752	0.320	1	53197092	missense variant	C/A	snv	1.7E-04	2.2E-04	13
rs372949028	TANGO2	0.827	0.240	22	20061684	splice donor variant	G/A;C	snv	7.1E-05	5.6E-05	13
rs1344172059	ABCC8	0.882	0.080	11	17430838	missense variant	C/T	snv		7.0E-06	12
rs763028380	ABCC8	0.851	0.320	11	17453271	missense variant	C/A;G;T	snv	4.0E-06; 1.6E-05		12
rs869025222	RARB	0.827	0.240	3	25580574	missense variant	T/C	snv			9
rs112445441	KRAS	0.658	0.400	12	25245347	missense variant	C/A;G;T	snv			8
rs1801175	G6PC	0.807	0.240	17	42903947	missense variant	C/T	snv	5.7E-04	3.4E-04	4
rs1057518775	KCNJ11	0.851	0.160	11	17387907	missense variant	G/A;C	snv			4
rs74315293	CPT2	0.851	0.200	1	53213509	missense variant	C/T	snv	2.4E-05	1.4E-05	3
rs137853238	HNF1A	0.807	0.200	12	120994265	missense variant	G/A	snv			3
rs113994167	ACADVL	0.882	0.240	17	7222272	missense variant	T/C	snv	1.3E-03	1.1E-03	2
rs146036912	HADH	0.925	0.080	4	108027727	missense variant	T/C	snv	6.8E-05	9.8E-05	2
rs137852671	ABCC8	0.790	0.160	11	17394295	missense variant	C/T	snv			1
rs1446306735	ABCC8	0.882	0.120	11	17395664	missense variant	C/A;T	snv			1
rs121434278	ACADM	0.882	0.120	1	75740094	missense variant	G/A	snv	4.0E-05	7.0E-05	1
rs387906659	AKT2	0.742	0.280	19	40257052	stop gained	C/A;T	snv			1