DisGeNET - a database of gene-disease associations

List of associated variants

Aniridia type 1, C0344542

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	Num. diseases
rs121907922	ELP4 ; PAX6	0.742	0.320	11	31789935	stop gained	T/A	snv	12
rs886041222	PAX6	0.776	0.280	11	31793787	stop gained	G/A	snv	8
rs121907906	WT1	0.776	0.320	11	32392717	stop gained	G/A	snv	8
rs121907917	PAX6	0.807	0.240	11	31794079	stop gained	G/A	snv	6
rs121907913	PAX6	0.827	0.080	11	31802769	missense variant	G/C	snv	5
rs1131692286	PAX6	0.882	0.080	11	31802767	frameshift variant	C/-	delins	3
rs1131692297	PAX6	0.882	0.080	11	31801653	stop gained	G/A	snv	3
rs121907914	PAX6	0.882	0.080	11	31801611	stop gained	G/A	snv	3
rs121907916	PAX6	0.882	0.080	11	31794705	stop gained	G/A	snv	3
rs1554985320	PAX6	0.925	0.240	11	31801619	stop gained	C/T	snv	3
rs1131692318	ELP4 ; PAX6	0.925	0.080	11	31790710	stop gained	C/A;G	snv	2
rs1554982299	ELP4 ; PAX6	0.925	0.080	11	31789982	frameshift variant	ACTTGAA/-	delins	2
rs864309681	ELP4 ; PAX6	0.925	0.200	11	31790816	frameshift variant	G/-	delins	2
rs1057517785	PAX6	0.925	0.080	11	31793521	stop gained	G/A;C	snv	2
rs1131692284	PAX6	0.925	0.080	11	31806411	start lost	T/C;G	snv	2
rs1131692289	PAX6	0.925	0.080	11	31802705	missense variant	T/C	snv	2
rs1131692293	PAX6	0.925	0.080	11	31801767	missense variant	C/T	snv	2
rs1131692304	PAX6	0.925	0.080	11	31800811	stop gained	G/A	snv	2
rs1131692308	PAX6	0.925	0.080	11	31800703	stop gained	G/A	snv	2
rs121907915	PAX6	0.925	0.080	11	31790835	stop gained	G/C	snv	2
rs121907918	PAX6	0.925	0.080	11	31800832	missense variant	G/A;T	snv	2
rs121907920	PAX6	0.925	0.080	11	31801727	missense variant	C/A	snv	2
rs121907928	PAX6	0.925	0.080	11	31801561	missense variant	G/A;C;T	snv	2
rs1329112134	PAX6	0.925	0.080	11	31802725	stop gained	G/A;T	snv	2
rs1554982609	PAX6	0.925	0.080	11	31790828	frameshift variant	-/GAGTA	delins	2