DisGeNET - a database of gene-disease associations

List of associated variants

Activated Partial Thromboplastin Time measurement, C0030605

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
rs1042445	HRG ; LOC105374258			3	186677647	missense variant	C/A;T	snv	0.27		3
rs12644950				4	154616169	upstream gene variant	G/A	snv		0.25	3
rs13177732	GRK6			5	177429924	intron variant	T/G	snv		0.16	1
rs1593	F11			4	186274397	3 prime UTR variant	T/A;G	snv			3
rs1621816	KNG1			3	186721384	non coding transcript exon variant	T/C	snv		0.32	1
rs1624230	KNG1			3	186721146	intron variant	C/A	snv		0.42	1
rs1624569	KNG1			3	186732280	intron variant	T/C	snv		0.38	1
rs16860992	HRG ; LOC105374258	1.000	0.080	3	186676249	intron variant	G/C;T	snv			3
rs17876032	GRK6 ; SLC34A1 ; F12			5	177403626	non coding transcript exon variant	G/A;C;T	snv	0.52; 6.2E-04; 1.8E-04		1
rs1801020	GRK6 ; F12 ; SLC34A1	1.000	0.040	5	177409531	5 prime UTR variant	A/G	snv	0.65	0.67	8
rs1801690	APOH	0.925	0.120	17	66212167	missense variant	C/G	snv	4.8E-02	4.0E-02	6
rs2050190	TSBP1-AS1 ; TSBP1	1.000	0.120	6	32371299	intron variant	A/G	snv		0.35	2
rs2062632	KNG1			3	186743392	3 prime UTR variant	T/C	snv		0.19	1
rs2228243	LOC105374258 ; HRG	1.000	0.080	3	186677324	missense variant	A/G;T	snv	0.20; 4.0E-06		3
rs2287694	GRK6			5	177433292	intron variant	T/C	snv		8.5E-02	2
rs2289252	F11-AS1 ; F11	1.000	0.040	4	186286227	non coding transcript exon variant	C/T	snv		0.35	4
rs2304595	KLKB1	1.000	0.040	4	186251126	non coding transcript exon variant	G/A	snv		0.36	3
rs2469184	AGBL1			15	86648746	intron variant	A/G	snv		0.54	1
rs2545801	GRK6			5	177414338	intron variant	T/C	snv		0.56	5
rs266723	KNG1			3	186729258	intron variant	A/C	snv		0.44	1
rs2731672	GRK6			5	177415473	intron variant	T/C	snv		0.66	6
rs3856930	KNG1			3	186740533	intron variant	C/T	snv		0.27	1
rs4253276	KLKB1			4	186242705	intron variant	G/C	snv		5.3E-02	1
rs4253304	KLKB1			4	186252417	intron variant	G/C	snv		0.36	1
rs4253421	F11			4	186283783	intron variant	A/C;G;T	snv			2