DisGeNET - a database of gene-disease associations

List of shared variants

Hereditary factor II deficiency disease, C0272317

Disease: Inherited Factor II deficiency

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
rs1799963	F2	0.695	0.400	11	46739505	3 prime UTR variant	G/A	snv		9.6E-03	25
rs121918477	F2	0.925	0.080	11	46726563	missense variant	C/T	snv	4.0E-06		2
rs121918478	F2	0.925	0.080	11	46728746	missense variant	C/T	snv	8.0E-06	7.0E-06	2
rs121918479	F2	0.925	0.080	11	46728138	missense variant	C/T	snv			2
rs121918480	F2	0.925	0.080	11	46739341	missense variant	G/T	snv			2
rs121918481	F2	0.925	0.080	11	46728004	missense variant	T/C	snv			2