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
rs17584499	PTPRD	0.925	0.080	9	8879118	intron variant	C/T	snv		0.14	3
rs2475335	PTPRD	0.882	0.080	9	10260263	intron variant	C/A;T	snv			3
rs749242026	PTPRD	0.882	0.080	9	8341203	missense variant	G/T	snv	8.0E-06		3
rs10815925	PTPRD	0.925	0.120	9	8712601	intron variant	C/G	snv		0.41	2
rs10958852	PTPRD			9	10060843	intron variant	C/T	snv		4.5E-04	2
rs1322281	PTPRD	1.000	0.040	9	10582445	intron variant	T/C	snv		0.76	2
rs139271658	PTPRD	1.000	0.040	9	9797383	intron variant	A/G	snv		1.9E-02	2
rs147345944	PTPRD			9	9479463	intron variant	T/C;G	snv			2
rs2784598	PTPRD	0.925	0.040	9	10512307	intron variant	T/A;C	snv			2
rs62529502	PTPRD			9	9142493	intron variant	T/A	snv		6.2E-02	2
rs10118330	PTPRD	1.000	0.040	9	9404090	intron variant	A/G	snv		3.5E-02	1
rs10119582	PTPRD			9	10060803	intron variant	C/T	snv		7.7E-02	1
rs10120450	PTPRD			9	8826588	intron variant	T/C	snv		0.58	1
rs10120501	PTPRD			9	8826767	intron variant	T/A;C	snv			1
rs10121203	PTPRD			9	8833227	intron variant	A/C;G	snv			1
rs10122096	PTPRD	1.000	0.040	9	9405431	intron variant	G/A	snv		0.87	1
rs10511544	PTPRD			9	10319881	intron variant	A/C	snv		0.32	1
rs10756026	PTPRD			9	10337976	intron variant	T/A	snv		0.34	1
rs10758996	PTPRD			9	8827077	intron variant	T/G	snv		0.58	1
rs10759062	PTPRD	1.000	0.040	9	9404584	intron variant	T/C;G	snv			1
rs10759063	PTPRD	1.000	0.040	9	9404813	intron variant	G/A;T	snv			1
rs10759064	PTPRD	1.000	0.040	9	9405003	intron variant	A/G	snv		0.55	1
rs10759102	PTPRD			9	9910123	intron variant	G/A	snv		0.38	1
rs10809070	PTPRD			9	10341235	intron variant	C/G	snv		0.30	1
rs10815964	PTPRD			9	8826108	intron variant	G/A;T	snv			1