DisGeNET - a database of gene-disease associations

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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
rs121907922	ELP4 ; PAX6	0.742	0.320	11	31789935	stop gained	T/A	snv			12
rs121907913	PAX6	0.827	0.080	11	31802769	missense variant	G/C	snv			4
rs121907916	PAX6	0.882	0.080	11	31794705	stop gained	G/A	snv			3
rs121907917	PAX6	0.807	0.240	11	31794079	stop gained	G/A	snv			3
rs1131692318	ELP4 ; PAX6	0.925	0.080	11	31790710	stop gained	C/A;G	snv			2
rs121907914	PAX6	0.882	0.080	11	31801611	stop gained	G/A	snv			2
rs121907919	PAX6	0.925	0.080	11	31800837	missense variant	A/T	snv			2
rs121907928	PAX6	0.925	0.080	11	31801561	missense variant	G/A;C;T	snv			2
rs757259413	PAX6	0.925	0.080	11	31794690	missense variant	G/A	snv	4.0E-06		2
rs878852979	PAX6	0.925	0.080	11	31810826	splice donor variant	A/T	snv			2
rs200015827	ELP4 ; PAX6	1.000	0.080	11	31790769	missense variant	G/C;T	snv	4.0E-06; 2.6E-04		1
rs1131692289	PAX6	0.925	0.080	11	31802705	missense variant	T/C	snv			1
rs1131692297	PAX6	0.882	0.080	11	31801653	stop gained	G/A	snv			1
rs121907912	PAX6	1.000	0.080	11	31800808	stop gained	G/A	snv			1
rs121907927	PAX6	1.000	0.080	11	31794072	missense variant	C/G	snv	4.0E-06		1
rs121907929	PAX6	1.000	0.080	11	31793797	stop gained	C/T	snv			1
rs1565200471	PAX6	1.000	0.080	11	31793719	frameshift variant	-/CT	delins			1
rs373661718	PAX6	1.000	0.080	11	31790836	missense variant	A/C	snv			1
rs397514640	PAX6	0.882	0.160	11	31802733	missense variant	G/A	snv			1
rs749244084	PAX6	1.000	0.080	11	31794689	missense variant	C/T	snv	8.0E-06		1
rs794726661	PAX6	1.000	0.080	11	31790862	splice acceptor variant	T/C	snv			1
rs780356070	PAX6 ; ELP4	1.000	0.080	11	31789938	missense variant	T/C	snv	4.5E-06	7.7E-06	1