DisGeNET - a database of gene-disease associations

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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
rs672601370	KIF1A	0.790	0.160	2	240775863	missense variant	G/A	snv			13
rs672601369	KIF1A	0.790	0.120	2	240783780	missense variant	C/T	snv			10
rs672601362	KIF1A	0.851	0.080	2	240789246	missense variant	G/A	snv			7
rs797045050	KIF1A	0.807	0.120	2	240797715	missense variant	C/T	snv			6
rs879253888	KIF1A	0.851	0.120	2	240783777	missense variant	G/A	snv			5
rs587778791	KIF1A	0.851	0.120	2	240757337	frameshift variant	A/-	del		7.0E-06	4
rs786200949	KIF1A	0.851	0.120	2	240788208	missense variant	G/A	snv			4
rs1064793161	KIF1A	0.882	0.080	2	240775889	missense variant	C/T	snv			3
rs1064795534	KIF1A	0.882	0.080	2	240788110	missense variant	C/T	snv			3
rs1553624714	KIF1A	0.882	0.080	2	240720913	splice donor variant	C/G	snv			3
rs1553633687	KIF1A	0.882	0.080	2	240762718	splice donor variant	C/G	snv			3
rs1559477798	KIF1A	0.882	0.080	2	240723560	splice acceptor variant	T/C	snv			3
rs1559526692	KIF1A	0.882	0.080	2	240783788	missense variant	G/T	snv			3
rs1559527796	KIF1A	0.882	0.080	2	240785101	splice acceptor variant	C/T	snv			3
rs368078424	KIF1A	0.882	0.080	2	240740133	stop gained	G/A	snv		7.0E-06	3
rs748477031	KIF1A	0.882	0.080	2	240763087	stop gained	G/A	snv	4.5E-06	7.0E-06	3
rs751051049	KIF1A	0.882	0.080	2	240769625	splice donor variant	A/G;T	snv	4.1E-06		3
rs797045655	KIF1A	0.882	0.080	2	240783087	missense variant	G/A	snv			3
rs886041692	KIF1A	0.882	0.080	2	240783776	missense variant	C/G;T	snv			3
rs387906798	KIF1A	0.925	0.080	2	240783773	missense variant	G/A	snv			2
rs387907259	KIF1A	0.925	0.080	2	240773246	missense variant	G/A;C	snv			2