DisGeNET - a database of gene-disease associations

List of associated variants

Hereditary Sensory Autonomic Neuropathy, Type 2, C0020072

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
rs587778791	KIF1A	0.851	0.120	2	240757337	frameshift variant	A/-	del		7.0E-06	4
rs137852735	WNK1	0.882	0.160	12	868745	frameshift variant	-/A	delins			3
rs137852737	RETREG1	0.925	0.080	5	16565788	stop gained	G/A	snv			2
rs137852739	RETREG1	0.925	0.080	5	16477736	stop gained	G/A;C	snv	4.0E-06		2
rs111033590	WNK1	0.925	0.080	12	868772	stop gained	C/T	snv	2.0E-05		2
rs587778798	KIF1A	1.000	0.080	2	240718111	frameshift variant	-/G	delins			1
rs137852736	LOC101929524 ; RETREG1	1.000	0.080	5	16616953	frameshift variant	AG/-	delins		7.0E-06	1
rs137852738	RETREG1	1.000	0.080	5	16478032	splice donor variant	A/G	snv			1
rs137852734	WNK1	1.000	0.080	12	868422	frameshift variant	A/-	delins			1