DisGeNET - a database of gene-disease associations

Source: GWASCAT

Variants associated to the Disease: Activated Partial Thromboplastin Time measurement ×

Variants associated to the Gene: HRG ×

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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
rs1042445	HRG ; LOC105374258			3	186677647	missense variant	C/A;T	snv	0.27		2
rs16860992	HRG ; LOC105374258	1.000	0.080	3	186676249	intron variant	G/C;T	snv			1
rs9898	HRG ; LOC105374258	0.925	0.160	3	186672838	missense variant	C/T	snv	0.38	0.43	1
rs2228243	LOC105374258 ; HRG	1.000	0.080	3	186677324	missense variant	A/G;T	snv	0.20; 4.0E-06		1