DisGeNET - a database of gene-disease associations

Source: ALL

Variants associated to the Disease: Dejerine-Sottas Disease (disorder) ×

Variants associated to the Gene: PMP22 ×

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
rs104894621	PMP22	0.790	0.080	17	15239575	missense variant	G/A	snv			9
rs104894617	PMP22	0.851	0.080	17	15260681	missense variant	A/G	snv			4
rs879253954	PMP22	0.882	0.160	17	15230951	missense variant	C/A;T	snv			4
rs104894622	PMP22	0.882	0.080	17	15260692	missense variant	G/T	snv			3
rs863225027	PMP22	0.882	0.120	17	15239555	missense variant	A/T	snv			3
rs104894620	PMP22	0.925	0.080	17	15239584	start lost	A/G;T	snv			2
rs104894624	PMP22	0.925	0.080	17	15230952	missense variant	C/A;G;T	snv	4.0E-06		2
rs28936682	PMP22	1.000	0.080	17	15230931	missense variant	G/A;T	snv	4.0E-06; 4.0E-06		1
rs775019409	PMP22	1.000	0.080	17	15230953	missense variant	G/A;T	snv	8.0E-06		1