DisGeNET - a database of gene-disease associations

Source: ALL

Variants associated to the Gene: PON1 ×

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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
rs662	PON1	0.485	0.840	7	95308134	missense variant	T/C	snv	0.38	0.42	157
rs854560	PON1	0.513	0.800	7	95316772	missense variant	A/C;G;N;T	snv	0.29		113
rs705382	PON1	0.827	0.200	7	95325909	upstream gene variant	C/G	snv		0.53	5
rs757158	PON1	0.851	0.240	7	95326216	upstream gene variant	C/T	snv		0.58	5
rs13306698	PON1	0.882	0.240	7	95311470	missense variant	T/C	snv	6.0E-03	1.9E-03	3
rs3735590	PON1	0.925	0.080	7	95298183	3 prime UTR variant	G/A	snv		0.14	3
rs1302207706	PON1	1.000	0.080	7	95316748	missense variant	C/T	snv			2
rs2057681	PON1			7	95308945	intron variant	A/G	snv		0.43	2
rs705379	PON1	1.000	0.080	7	95324583	upstream gene variant	G/A;C;T	snv			2
rs705381	PON1	1.000	0.080	7	95324637	upstream gene variant	T/C	snv		0.72	2
rs72552787	PON1	0.925	0.080	7	95315388	missense variant	T/C	snv			2
rs755603793	PON1	0.925	0.080	7	95308077	missense variant	C/T	snv	1.6E-05		2
rs854566	PON1	0.925	0.080	7	95319437	intron variant	A/G	snv		0.78	2
rs11292716	PON1			7	95305887	intron variant	A/-	delins			1
rs1157745	PON1			7	95311726	intron variant	G/T	snv		0.42	1
rs2074351	PON1	1.000	0.080	7	95318487	non coding transcript exon variant	G/A	snv		0.26	1
rs2237583	PON1			7	95320865	intron variant	C/G;T	snv			1
rs3917481	PON1	1.000	0.040	7	95321453	intron variant	C/T	snv		3.7E-02	1
rs3917502	PON1			7	95316432	intron variant	C/T	snv		3.9E-02	1
rs3917510	PON1			7	95313808	intron variant	T/G	snv		6.2E-02	1
rs3917532	PON1			7	95310807	intron variant	A/T	snv		0.42	1
rs3917539	PON1			7	95308384	intron variant	-/AA	delins		0.42	1
rs3917545	PON1			7	95306923	intron variant	A/C	snv		0.13	1
rs3917549	PON1			7	95305887	intron variant	A/-	delins		0.30	1
rs765657236	PON1	1.000	0.120	7	95318360	synonymous variant	G/A	snv	8.0E-06		1