DisGeNET - a database of gene-disease associations

List of shared variants

Infantile Refsum Disease (disorder), C0282527

Disease: PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER)

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
rs61750420	PEX1	0.689	0.480	7	92501562	missense variant	C/T	snv	3.2E-04	3.5E-04	52
rs61750415	PEX1	0.882	0.360	7	92503169	frameshift variant	-/A	delins	5.0E-04	5.1E-04	4
rs61750428	GATAD1 ; PEX1	0.882	0.360	7	92494331	stop gained	G/A;T	snv	8.0E-06; 4.0E-06		4
rs121434455	PEX1	0.882	0.360	7	92504812	missense variant	A/G	snv		7.0E-06	3
rs149806989	PEX1	0.925	0.240	7	92517968	stop gained	G/A	snv	8.0E-06		3
rs398123408	PEX1	0.925	0.240	7	92504842	protein altering variant	-/TCCACACTG	delins	1.2E-05	2.1E-05	3
rs61750426	PEX1 ; GATAD1	0.925	0.240	7	92494497	frameshift variant	T/-;TTT	delins	3.6E-05	5.6E-05	3
rs61750427	GATAD1 ; PEX1	0.882	0.360	7	92494357	missense variant	A/G;T	snv	7.2E-05; 4.0E-06		3
rs756876301	PEX1	0.882	0.360	7	92517275	splice donor variant	C/A;T	snv	1.6E-05	2.1E-05	3
rs794729652	GATAD1 ; PEX1	0.882	0.360	7	92491330	frameshift variant	-/G	delins	4.0E-06		3
rs1028247729	PEX1	0.925	0.240	7	92522246	splice acceptor variant	C/A;G	snv		2.1E-05	2
rs1057517463	PEX1	0.925	0.240	7	92511008	frameshift variant	-/C	delins			2
rs1057517464	PEX1	0.925	0.240	7	92504882	stop gained	G/A	snv	4.0E-06		2
rs1057517465	PEX1	0.925	0.240	7	92517439	frameshift variant	T/-	delins			2
rs1057517467	GATAD1 ; PEX1	0.925	0.240	7	92489776	stop gained	G/A	snv			2
rs1057517468	PEX1	0.925	0.240	7	92503130	stop gained	G/A	snv			2
rs1057517469	PEX1	0.925	0.240	7	92510943	splice donor variant	C/T	snv			2
rs1057517470	PEX1	0.925	0.240	7	92499805	stop gained	G/A	snv			2
rs1057517472	GATAD1 ; PEX1	0.925	0.240	7	92494553	frameshift variant	-/A	delins			2
rs1057517478	PEX1	0.925	0.240	7	92504895	frameshift variant	C/-	delins			2
rs1057517479	PEX1	0.925	0.240	7	92518256	splice acceptor variant	C/A	snv			2
rs1057517480	PEX1 ; GATAD1	0.925	0.240	7	92489803	stop gained	C/A	snv			2
rs1057517481	PEX1 ; GATAD1	0.925	0.240	7	92494538	stop gained	G/A;C	snv	4.0E-06		2
rs1057517484	PEX1 ; GATAD1	0.925	0.240	7	92494614	frameshift variant	-/T	delins			2
rs1057517485	PEX1	0.925	0.240	7	92499736	stop gained	G/A	snv			2