DisGeNET - a database of gene-disease associations

List of associated variants

Purpura, Thrombotic Thrombocytopenic, C0034155

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	AF EXOME	AF GENOME	Num. diseases
rs2476601	AP4B1-AS1 ; PTPN22	0.498	0.800	1	113834946	missense variant	A/G	snv	0.93	0.93	121
rs6903608	HLA-DRB9	0.742	0.400	6	32460508	intron variant	C/G;T	snv			11
rs1554785242	ADAMTS13	0.882	0.160	9	133426240	missense variant	G/T	snv			8
rs28647808	ADAMTS13	0.882	0.160	9	133440409	missense variant	C/G	snv	6.1E-02	5.8E-02	4
rs11575933	ADAMTS13	0.925	0.080	9	133436943	missense variant	C/T	snv	5.8E-03	2.3E-03	3
rs142572218	ADAMTS13	0.925	0.080	9	133454548	missense variant	C/A;T	snv	8.3E-04		2
rs148312697	ADAMTS13	0.925	0.080	9	133426218	missense variant	G/C	snv	4.7E-04	4.3E-04	2
rs2301612	ADAMTS13	0.925	0.120	9	133436862	missense variant	C/A;G	snv	0.38	0.32	2
rs281875296	ADAMTS13	0.925	0.080	9	133437833	missense variant	G/A	snv	2.0E-05		2
rs281875299	ADAMTS13	0.925	0.080	9	133440344	missense variant	C/T	snv	1.2E-05		2
rs41314453	ADAMTS13	1.000	0.080	9	133442704	missense variant	C/T	snv	9.8E-03	9.9E-03	2
rs281875308	CACFD1 ; ADAMTS13	0.925	0.080	9	133458023	missense variant	C/G;T	snv	4.0E-06; 1.2E-05	1.4E-05	2
rs216321	VWF	1.000	0.080	12	6034818	missense variant	T/C	snv	0.90	0.92	1