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 GENOME	Num. diseases
rs1883536	LOC101927138 ; PTPRT	1.000	0.040	20	42968931	non coding transcript exon variant	G/A	snv	6.0E-02	1
rs206652	LOC105372623 ; PTPRT	1.000	0.040	20	42947823	intron variant	C/T	snv	9.3E-02	1
rs1812007	PTPRT	1.000	0.040	20	42894400	intron variant	C/T	snv	5.6E-02	1
rs206636	PTPRT	1.000	0.040	20	42928261	intron variant	C/A	snv	0.79	1
rs206637	PTPRT	1.000	0.040	20	42928665	intron variant	A/C	snv	9.3E-02	1
rs206640	PTPRT	1.000	0.040	20	42931885	intron variant	G/A	snv	8.1E-02	1
rs206670	PTPRT	1.000	0.040	20	42912368	intron variant	C/G;T	snv		1
rs206683	PTPRT	1.000	0.040	20	42923380	intron variant	G/A	snv	8.2E-02	1
rs208208	PTPRT	1.000	0.040	20	42897322	intron variant	G/A	snv	3.6E-02	1
rs2750074	PTPRT	1.000	0.040	20	42899908	intron variant	T/C	snv	2.7E-02	1
rs511805	PTPRT	1.000	0.040	20	42906248	intron variant	C/A;T	snv	6.4E-02	1
rs535000	PTPRT	1.000	0.040	20	42903651	intron variant	C/T	snv	6.3E-02	1
rs558832	PTPRT	1.000	0.040	20	42903960	intron variant	G/C	snv	9.5E-02	1
rs6016916	PTPRT	1.000	0.040	20	42888730	intron variant	T/C	snv	4.2E-02	1
rs6016917	PTPRT	1.000	0.040	20	42888751	intron variant	C/T	snv	4.2E-02	1
rs6030546	PTPRT	1.000	0.040	20	42888059	intron variant	C/A;G	snv		1
rs6093764	PTPRT	1.000	0.040	20	42965385	intron variant	A/G	snv	9.2E-02	1
rs7268966	PTPRT	1.000	0.040	20	42929484	intron variant	T/C	snv	1.6E-02	1
rs8115069	PTPRT	1.000	0.040	20	42921854	intron variant	A/T	snv	6.7E-02	1
rs8121056	PTPRT	1.000	0.040	20	42921675	intron variant	C/G;T	snv		1
rs965018	PTPRT	1.000	0.040	20	42902946	intron variant	G/T	snv	2.6E-02	1
rs6030572	PTPRT ; LOC101927138	1.000	0.040	20	42970355	intron variant	A/C	snv	0.25	1