DisGeNET - a database of gene-disease associations

List of associated variants

Pelizaeus-Merzbacher Disease, C0205711

Source: UNIPROT ×

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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
rs132630280	PLP1 ; RAB9B	1.000	0.120	X	103787811	missense variant	C/G;T	snv			1
rs132630282	PLP1 ; RAB9B	1.000	0.120	X	103787888	missense variant	A/C	snv			1
rs132630283	PLP1 ; RAB9B	1.000	0.120	X	103788485	missense variant	T/C	snv			1
rs132630284	PLP1 ; RAB9B	1.000	0.120	X	103787951	missense variant	G/A;C	snv			1
rs132630285	PLP1 ; RAB9B	1.000	0.120	X	103786493	missense variant	G/A	snv			1
rs132630289	PLP1 ; RAB9B	1.000	0.120	X	103785705	missense variant	C/T	snv			1
rs398123466	PLP1 ; RAB9B	1.000	0.120	X	103788497	missense variant	G/A	snv			1
rs886043504	PLP1 ; RAB9B	1.000	0.120	X	103789375	missense variant	G/A	snv			1
rs1064794255	RAB9B ; PLP1	1.000	0.120	X	103785675	missense variant	G/A	snv			1
rs132630278	RAB9B ; PLP1	1.000	0.120	X	103788460	missense variant	C/T	snv			1
rs132630279	RAB9B ; PLP1	1.000	0.120	X	103787831	missense variant	T/C	snv			1
rs132630281	RAB9B ; PLP1	1.000	0.120	X	103788469	missense variant	G/T	snv			1
rs132630286	RAB9B ; PLP1	0.925	0.120	X	103788475	missense variant	G/T	snv			1
rs398123467	RAB9B ; PLP1	0.925	0.120	X	103789373	missense variant	G/C	snv			1
rs672601372	RARS1	0.925	0.120	5	168486503	missense variant	A/C;G;T	snv	4.2E-05		1