DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variants associated to the Disease: Spastic Paraplegia ×

Variants associated to the Gene: CYP7B1 ×

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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
rs116171274	CYP7B1	0.882	0.120	8	64596707	missense variant	G/A;T	snv	5.2E-04; 8.0E-06		3
rs121908613	CYP7B1	0.882	0.120	8	64615716	stop gained	A/G;T	snv	7.6E-05		3
rs72554620	CYP7B1	0.882	0.200	8	64604753	stop gained	G/A	snv	4.0E-06	1.4E-05	3
rs121908611	CYP7B1	0.925	0.120	8	64596913	missense variant	C/T	snv	2.8E-05	6.3E-05	2
rs587777222	CYP7B1	0.925	0.120	8	64615194	missense variant	T/C	snv	2.8E-05	2.8E-05	2
rs1060502224	CYP7B1	1.000	0.080	8	64596876	frameshift variant	-/A	delins	8.0E-06		1
rs200737038	CYP7B1	1.000	0.080	8	64616207	stop gained	G/A	snv	1.4E-04	7.0E-05	1
rs746979262	CYP7B1	1.000	0.080	8	64624475	stop gained	G/A	snv	8.0E-06	7.0E-06	1
rs770285398	CYP7B1	1.000	0.080	8	64616217	frameshift variant	GTTT/-	delins	2.8E-05	2.8E-05	1
rs794727501	CYP7B1	1.000	0.080	8	64616016	stop gained	C/G;T	snv			1