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
rs551924				9	133306143	downstream gene variant	G/A;C	snv			1
rs55829013	SCARA5			8	27920631	intron variant	A/C	snv		0.33	1
rs57040304	VWF			12	5953728	non coding transcript exon variant	A/G	snv		9.7E-02	1
rs574237				9	133303338	downstream gene variant	G/A	snv		0.53	1
rs58204830	TC2N			14	91836628	intron variant	G/A	snv		8.4E-02	1
rs607900	MED22			9	133340381	3 prime UTR variant	T/C	snv		8.1E-02	1
rs62575992	STKLD1			9	133389365	intron variant	C/T	snv		6.3E-02	1
rs7135039	VWF			12	6051448	intron variant	C/T	snv		0.40	1
rs7816579	SCARA5			8	27948298	intron variant	A/C;G;T	snv			1
rs78490142				9	133238613	intergenic variant	T/C	snv		1.1E-02	1
rs9399599	STXBP5			6	147382163	intron variant	A/T	snv		0.51	1
rs9271597		0.925	0.080	6	32623514	upstream gene variant	T/A	snv		0.39	3
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
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
rs1063856	VWF	0.763	0.400	12	6044368	missense variant	T/C;G	snv	0.31		14