DisGeNET - a database of gene-disease associations

List of associated variants

Andersen Syndrome, C1563715

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
rs104886142	COL4A5	0.790	0.280	X	108598793	missense variant	G/A	snv	8.7E-05	4.7E-05	10
rs104894575	KCNJ2	1.000	0.120	17	70175251	missense variant	A/T	snv			1
rs104894578	KCNJ2	0.807	0.280	17	70175691	missense variant	C/T	snv			6
rs104894579	KCNJ2	1.000	0.120	17	70175938	missense variant	G/A;C;T	snv			1
rs104894580	KCNJ2	0.790	0.240	17	70175238	missense variant	C/A;T	snv	4.0E-06		7
rs104894581	KCNJ2	1.000	0.120	17	70175596	missense variant	C/T	snv			1
rs104894582	KCNJ2	1.000	0.120	17	70175943	missense variant	G/A	snv			1
rs104894583	KCNJ2	1.000	0.120	17	70175685	missense variant	A/C	snv			1
rs104894585	KCNJ2	0.851	0.120	17	70175263	missense variant	C/G;T	snv			5
rs1060500053	KCNJ2	1.000	0.120	17	70175721	stop gained	C/T	snv	4.0E-06		1
rs1230871085	EPHA3	1.000	0.120	3	89210149	missense variant	C/G	snv	4.0E-06		1
rs1246784896	EPHA3	1.000	0.120	3	89127264	synonymous variant	A/G	snv	4.0E-06		1
rs1555603974	KCNJ2	1.000	0.120	17	70175754	stop gained	G/T	snv			1
rs1567823248	KCNJ2	0.925	0.120	17	70176140	frameshift variant	C/-	delins			2
rs1805123	KCNH2	0.724	0.280	7	150948446	missense variant	T/A;C;G	snv	1.3E-05; 0.18; 8.4E-06		18
rs1805124	SCN5A	0.742	0.280	3	38603929	missense variant	T/C	snv	0.22	0.25	16
rs199473369	KCNJ2	1.000	0.120	17	70175250	missense variant	G/A;C	snv			1
rs199473371	KCNJ2	1.000	0.120	17	70175272	missense variant	A/G	snv			1
rs199473373	KCNJ2	0.882	0.120	17	70175283	missense variant	C/T	snv			3
rs199473377	KCNJ2	0.925	0.120	17	70175470	missense variant	G/A;C	snv			2
rs199473380	KCNJ2	1.000	0.120	17	70175500	missense variant	G/T	snv			1
rs199473383	KCNJ2	1.000	0.120	17	70175683	missense variant	G/A	snv			1
rs199473384	KCNJ2	0.925	0.120	17	70175692	missense variant	G/A;C;T	snv			2
rs199473387	KCNJ2	1.000	0.120	17	70175952	missense variant	A/C;G	snv			2
rs199473650	KCNJ2	1.000	0.120	17	70175200	missense variant	G/T	snv			1