DisGeNET - a database of gene-disease associations

Source: ALL

Variants associated to the Gene: KYNU ×

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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
rs1135401744	KYNU	0.776	0.120	2	142918608	splice acceptor variant	G/T	snv	1.4E-04		14
rs758865880	KYNU	0.807	0.280	2	142956235	stop gained	T/A	snv	7.2E-05	4.9E-05	8
rs770642379	KYNU	0.807	0.280	2	143040430	frameshift variant	TTTAAGC/-	delins	3.2E-05	2.8E-05	8
rs2304705	KYNU	1.000	0.040	2	142957696	missense variant	G/A;C	snv	9.1E-04; 4.0E-06		2
rs3768844	KYNU			2	143039125	intron variant	A/G	snv		0.16	1
rs3816193	KYNU			2	143042338	3 prime UTR variant	G/A	snv		0.16	1
rs606231307	KYNU			2	142960633	missense variant	A/G	snv	1.6E-05		1
rs78201785	KYNU			2	142917663	intron variant	A/C	snv		5.8E-02	1