DisGeNET - a database of gene-disease associations

List of associated variants

Factor VIII measurement, C2825857

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
rs1063856	VWF	0.763	0.400	12	6044368	missense variant	T/C;G	snv	0.31		14
rs1070073	STAB2			12	103606541	intron variant	T/G	snv		0.71	2
rs11064010	VWF			12	6050980	intron variant	T/A;C	snv			2
rs2238109	VWF			12	6044801	intron variant	T/A	snv		0.40	2
rs4981022	STAB2 ; NT5DC3			12	103756096	intron variant	G/A	snv		0.69	2
rs12423482	VWF			12	5961679	intron variant	A/G	snv		4.4E-02	1
rs2723889	STAB2			12	103606692	intron variant	T/C	snv		0.72	1
rs3751198	NT5DC3 ; STAB2			12	103753429	intron variant	A/G	snv		0.59	1
rs57040304	VWF			12	5953728	non coding transcript exon variant	A/G	snv		9.7E-02	1
rs7135039	VWF			12	6051448	intron variant	C/T	snv		0.40	1
rs4904820	TC2N			14	91852591	intron variant	G/A	snv		0.53	2
rs10498631	TC2N			14	91802187	intron variant	C/T	snv		0.29	1
rs58204830	TC2N			14	91836628	intron variant	G/A	snv		8.4E-02	1
rs1869365	RAB5C			17	42141847	intron variant	T/C	snv		0.40	2
rs9616897				22	50644690	intergenic variant	C/A;G	snv			2
rs137631				22	39321701	upstream gene variant	T/C	snv		0.92	1
rs150926226	TMLHE ; TMLHE-AS1			X	155491696	intron variant	G/A;C	snv			1