DisGeNET - a database of gene-disease associations

List of associated variants

Hereditary liability to pressure palsies, C0393814

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
rs104894619	PMP22	0.827	0.120	17	15231047	missense variant	G/A	snv	4.0E-03	3.7E-03	9
rs281865127	MPZ	0.827	0.120	1	161306767	missense variant	T/C	snv			5
rs104894623	PMP22	0.851	0.200	17	15239591	missense variant	C/G;T	snv			4
rs104894625	PMP22	0.851	0.120	17	15260663	missense variant	G/A;T	snv			4
rs80338763	PMP22	0.851	0.200	17	15239509	frameshift variant	C/-;CC	delins			4
rs879253858	MPZ	0.882	0.120	1	161306753	missense variant	T/G	snv			3
rs863225027	PMP22	0.882	0.120	17	15239555	missense variant	A/T	snv			3
rs4280262	LITAF	0.925	0.120	16	11553636	missense variant	T/C	snv	0.17	0.16	2
rs377335295	PMP22	1.000	0.120	17	15259184	missense variant	C/G;T	snv	2.4E-05; 2.8E-05		1
rs587776691	PMP22	1.000	0.120	17	15260708	frameshift variant	TC/-	delins			1
rs1250554906	TNF	1.000	0.120	6	31576808	missense variant	G/A	snv	4.1E-06	7.0E-06	1