DisGeNET - a database of gene-disease associations

List of associated variants

Mild hereditary factor VIII deficiency disease, C0272324

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
rs137852412	F8	0.925	0.080	X	154961137	missense variant	T/C	snv			2
rs137852464	F8	0.925	0.080	X	154863125	missense variant	G/A	snv			2
rs782426204	F8	1.000	0.080	X	154904974	missense variant	A/G	snv	5.5E-06		2
rs782548763	F8	0.925	0.080	X	154861783	missense variant	C/G	snv	5.5E-06		2
rs753654616	F9	0.925	0.080	X	139561530	missense variant	A/G	snv			2
rs772061412	F9	0.925	0.080	X	139561664	missense variant	C/G	snv	5.5E-06		2