DisGeNET - a database of gene-disease associations

Source: GWASDB

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

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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
rs1624230	KNG1			3	186721146	intron variant	C/A	snv		0.42	1
rs1624569	KNG1			3	186732280	intron variant	T/C	snv		0.38	1
rs2062632	KNG1			3	186743392	3 prime UTR variant	T/C	snv		0.19	1
rs266723	KNG1			3	186729258	intron variant	A/C	snv		0.44	1
rs3856930	KNG1			3	186740533	intron variant	C/T	snv		0.27	1
rs5030023	KNG1			3	186726855	intron variant	G/A	snv		0.20	1
rs5030028	KNG1			3	186727965	intron variant	C/T	snv		0.23	1
rs5030062	KNG1			3	186736391	non coding transcript exon variant	A/C	snv		0.35	1
rs5030091	KNG1			3	186743088	3 prime UTR variant	T/C	snv		0.42	1
rs710446	KNG1	0.925	0.120	3	186742138	missense variant	T/C	snv	0.42	0.44	1