DisGeNET - a database of gene-disease associations

List of associated variants

Cantu syndrome, C0795905

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
rs1057516044	ABCC9	0.851	0.240	12	21913005	missense variant	A/G	snv			9
rs387907208	ABCC9	0.851	0.200	12	21842327	missense variant	G/A;C	snv			5
rs761784169	LOC105369689 ; ABCC9	0.882	0.200	12	21805251	frameshift variant	-/A	ins	4.0E-06; 4.0E-06; 5.4E-04		3
rs387907209	ABCC9	0.925	0.200	12	21842326	missense variant	C/G;T	snv	4.0E-06		2
rs387907228	ABCC9	0.925	0.200	12	21842441	missense variant	G/A	snv			2
rs1165205076	ABCC9	1.000	0.200	12	21910852	missense variant	C/A	snv			1
rs387907210	ABCC9	1.000	0.200	12	21844884	missense variant	C/T	snv			1
rs387907211	ABCC9	1.000	0.200	12	21908099	missense variant	G/A	snv			1
rs387907227	ABCC9	1.000	0.200	12	21842440	missense variant	C/A;T	snv			1
rs387907229	ABCC9	1.000	0.200	12	21845641	missense variant	A/G	snv			1
rs387907230	ABCC9	1.000	0.200	12	21933888	missense variant	G/A	snv			1
rs12298510	ABCC9 ; LOC105369689	1.000	0.200	12	21828977	missense variant	C/G;T	snv	4.0E-06		1
rs606231263	LOC105369689 ; KCNJ8	1.000	0.200	12	21773424	missense variant	C/T	snv			1
rs606231264	LOC105369689 ; KCNJ8	1.000	0.200	12	21766472	missense variant	A/T	snv			1