DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variants associated to the Gene: ABCC8 ×

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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
rs141322087	ABCC8	0.851	0.160	11	17404552	missense variant	C/T	snv	1.2E-05	2.1E-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
rs193922402	ABCC8	0.807	0.160	11	17395611	stop gained	G/A	snv	1.3E-05	7.0E-06	6
rs72559734	ABCC8	0.807	0.160	11	17474955	missense variant	C/A;T	snv	4.0E-06; 8.0E-06		6
rs72559722	ABCC8	0.807	0.160	11	17412716	stop gained	G/A	snv	6.1E-05	2.1E-05	6
rs1554948310	ABCC8	0.827	0.160	11	17474884	splice donor variant	A/G	snv			5
rs72559715	ABCC8	0.827	0.160	11	17394379	missense variant	C/T	snv		7.0E-06	5
rs137852673	ABCC8	0.851	0.120	11	17395915	missense variant	G/A;T	snv	5.0E-06; 2.0E-05		3
rs151344623	ABCC8	0.882	0.120	11	17397055	missense variant	C/G;T	snv	3.3E-04		3
rs72559716	ABCC8	0.882	0.120	11	17395172	missense variant	C/T	snv	2.2E-05	7.0E-06	3
rs137852674	ABCC8	0.925	0.120	11	17430887	missense variant	G/C	snv			2
rs193922408	ABCC8	0.925	0.120	11	17393122	missense variant	C/T	snv			2
rs193922400	ABCC8	0.925	0.120	11	17404524	missense variant	C/A;T	snv	4.0E-06		2
rs28936370	ABCC8	0.925	0.120	11	17396980	missense variant	C/G;T	snv	8.0E-06; 2.0E-05		2
rs80356637	ABCC8	0.851	0.240	11	17470119	missense variant	A/C;G	snv			2
rs137852676	ABCC8	0.882	0.160	11	17395852	stop gained	C/A;T	snv	1.5E-05		2
rs863225280	ABCC8	0.925	0.120	11	17461722	missense variant	C/T	snv			2
rs1057517420	ABCC8	0.925	0.120	11	17408518	splice acceptor variant	C/G	snv		7.0E-06	2
rs139964066	ABCC8	0.925	0.120	11	17402671	missense variant	G/A	snv	5.6E-05	3.5E-05	2
rs200670692	ABCC8	0.925	0.120	11	17476715	missense variant	A/T	snv	5.8E-05	3.5E-05	2
rs1057516281	ABCC8	0.925	0.120	11	17398344	stop gained	G/A	snv		1.4E-05	2
rs541269678	ABCC8	0.925	0.120	11	17407417	stop gained	G/A	snv	1.6E-05	7.0E-06	2
rs72559713	ABCC8	0.925	0.120	11	17393109	missense variant	A/G	snv	1.2E-05	7.0E-06	2
rs151344624	ABCC8	0.925	0.120	11	17395888	inframe deletion	AAG/-	delins			2