DisGeNET - a database of gene-disease associations

List of associated variants

Peripheral axonal neuropathy, C1263857

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
rs387906799	KIF1A	0.742	0.200	2	240788118	missense variant	G/A	snv			19
rs672601369	KIF1A	0.790	0.120	2	240783780	missense variant	C/T	snv			10
rs104894080	GDAP1	0.790	0.120	8	74364005	missense variant	C/T	snv	3.2E-05	4.2E-05	9
rs672601362	KIF1A	0.851	0.080	2	240789246	missense variant	G/A	snv			7
rs672601367	KIF1A	0.851	0.080	2	240785066	missense variant	T/G	snv			7
rs672601363	KIF1A	0.851	0.080	2	240788109	missense variant	C/T	snv			6
rs672601366	KIF1A	0.851	0.120	2	240786339	missense variant	C/G	snv			6
rs672601364	KIF1A	0.925	0.040	2	240786513	missense variant	C/A	snv			4
rs672601365	KIF1A	0.925	0.040	2	240786444	missense variant	G/A	snv		7.0E-06	4
rs773159585	MFN2	0.882	0.080	1	11998877	missense variant	C/T	snv	8.0E-06		4
rs202219507	ALS2	1.000	0.040	2	201733377	missense variant	T/A	snv	4.9E-04	5.9E-04	1
rs761291489	ALS2	1.000	0.040	2	201711091	missense variant	C/T	snv	1.6E-05	1.4E-05	1