DisGeNET - a database of gene-disease associations

List of associated variants

Xanthomatosis, Cerebrotendinous, C0238052

Source: CLINVAR ×

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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
rs587778779	CYP27A1	0.807	0.240	2	218814379	splice acceptor variant	G/A;T	snv			14
rs121908096	CYP27A1	0.827	0.320	2	218814186	missense variant	C/A;T	snv	8.0E-06; 2.9E-04		10
rs886556800	CYP27A1	0.827	0.320	2	218809576	splice acceptor variant	G/T	snv			10
rs1057519469	CYP27A1	1.000	0.080	2	218812926	stop gained	A/T	snv			1
rs1160640803	CYP27A1	1.000	0.080	2	218809720	stop gained	G/A;C	snv	4.0E-06	7.0E-06	1
rs1178393503	CYP27A1	1.000	0.080	2	218814181	frameshift variant	CT/-	delins		1.4E-05	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
rs121908102	CYP27A1	1.000	0.080	2	218813095	missense variant	C/T	snv	8.1E-05; 4.0E-06	1.1E-04	1
rs1553614310	CYP27A1	1.000	0.080	2	218782375	stop gained	C/T	snv			1
rs1553616235	CYP27A1	1.000	0.080	2	218812314	frameshift variant	A/-	del			1
rs1553616253	CYP27A1	1.000	0.080	2	218812423	splice donor variant	T/C	snv			1
rs1553616312	CYP27A1	1.000	0.080	2	218812922	splice acceptor variant	A/G	snv			1
rs1553616457	CYP27A1	1.000	0.080	2	218814378	splice acceptor variant	A/C;T	snv			1
rs1553616478	CYP27A1	1.000	0.080	2	218814543	splice acceptor variant	A/G	snv			1
rs1553616508	CYP27A1	1.000	0.080	2	218814708	frameshift variant	G/-	del			1
rs1559391480	CYP27A1	1.000	0.080	2	218809719	stop gained	G/A	snv			1
rs1559392331	CYP27A1	1.000	0.080	2	218812281	frameshift variant	CG/A	delins			1
rs200553205	CYP27A1	1.000	0.080	2	218813096	splice region variant	G/A;C;T	snv	9.3E-05		1
rs200883871	CYP27A1	1.000	0.080	2	218814696	missense variant	G/C	snv	1.1E-04	7.0E-06	1
rs201114717	CYP27A1	1.000	0.080	2	218809700	missense variant	C/G;T	snv	4.0E-06; 6.8E-05		1
rs201346271	CYP27A1	1.000	0.080	2	218812421	missense variant	G/C	snv	3.2E-05	7.0E-06	1
rs374507635	CYP27A1	1.000	0.080	2	218815007	stop gained	C/A;T	snv	4.0E-06		1
rs376230356	CYP27A1	1.000	0.080	2	218809701	missense variant	G/A	snv	1.6E-05	2.8E-05	1