DisGeNET - a database of gene-disease associations

List of shared variants

von Willebrand's factor (lab test), C2239219

Disease: Factor VIII measurement

Source: ALL

Results per page

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
rs651007		0.851	0.160	9	133278431	upstream gene variant	T/A;C	snv			22
rs687621	ABO	0.851	0.240	9	133261662	intron variant	G/A;C	snv			18
rs687289	ABO	1.000	0.120	9	133261703	intron variant	A/G	snv			15
rs8176719	ABO	0.925	0.120	9	133257521	frameshift variant	-/C	ins	0.37	0.35	6
rs9390460	STXBP5			6	147373198	intron variant	T/C	snv		0.51	3
rs1070073	STAB2			12	103606541	intron variant	T/G	snv		0.71	2
rs11064010	VWF			12	6050980	intron variant	T/A;C	snv			2
rs1869365	RAB5C			17	42141847	intron variant	T/C	snv		0.40	2
rs2238109	VWF			12	6044801	intron variant	T/A	snv		0.40	2
rs35458154	KIRREL3 ; ST3GAL4			11	126426930	intron variant	G/A	snv		1.3E-02	2
rs4276643	SCARA5			8	27946082	intron variant	C/T	snv		0.64	2
rs4904820	TC2N			14	91852591	intron variant	G/A	snv		0.53	2
rs4981022	STAB2 ; NT5DC3			12	103756096	intron variant	G/A	snv		0.69	2
rs548630				5	73110832	intergenic variant	A/C;T	snv			2
rs9616897				22	50644690	intergenic variant	C/A;G	snv			2