DisGeNET - a database of gene-disease associations

List of associated variants

Xanthomatosis, Cerebrotendinous, C0238052

Source: UNIPROT ×

Results per page

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
rs121908096	CYP27A1	0.827	0.320	2	218814186	missense variant	C/A;T	snv	8.0E-06; 2.9E-04		1
rs121908097	CYP27A1	1.000	0.080	2	218814702	missense variant	G/A	snv	1.6E-05	2.8E-05	1
rs121908098	CYP27A1	1.000	0.080	2	218814701	missense variant	C/T	snv	2.4E-05	7.0E-06	1
rs121908099	CYP27A1	1.000	0.080	2	218814409	missense variant	G/A	snv	4.0E-05	7.0E-06	1
rs72551313	CYP27A1	1.000	0.080	2	218809755	missense variant	G/A	snv			1
rs72551322	CYP27A1	1.000	0.080	2	218814716	missense variant	C/A;G;T	snv	1.6E-05; 1.2E-05; 4.4E-05		1