DisGeNET - a database of gene-disease associations

Source: ALL

Variants associated to the Gene: CDKN2A ×

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Variant

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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
rs199907548	CDKN2A	0.882	0.160	9	21974682	missense variant	A/C;G	snv	6.3E-04		5
rs3731215	CDKN2A			9	21985772	intron variant	A/G	snv		1.2E-03	5
rs137854599	CDKN2A	0.882	0.080	9	21971093	missense variant	C/G;T	snv			4
rs387906410	CDKN2A	0.882	0.080	9	21971019	missense variant	GC/AG	mnv			4
rs749714198	CDKN2A	0.882	0.200	9	21971100	missense variant	G/A	snv	8.6E-06	7.0E-06	4
rs757066045	CDKN2A	0.882	0.040	9	21974725	missense variant	C/T	snv	8.2E-06		4
rs786204195	CDKN2A	0.851	0.200	9	21974686	missense variant	G/A;T	snv			4
rs878853647	CDKN2A	0.882	0.120	9	21971099	missense variant	C/G;T	snv			4
rs104894109	CDKN2A	0.925	0.120	9	21971192	missense variant	C/A;T	snv			3
rs1064794292	CDKN2A	0.882	0.200	9	21974760	missense variant	C/T	snv			3
rs1131691186	CDKN2A	0.925	0.120	9	21974761	missense variant	C/A;T	snv			3
rs121913381	CDKN2A			9	21971037	missense variant	C/A;T	snv			3
rs3731246	CDKN2A	0.882	0.120	9	21971990	intron variant	C/G	snv		0.11	3
rs45476696	CDKN2A	0.925	0.200	9	21970902	stop gained	C/A;T	snv			3
rs559848002	CDKN2A	0.925	0.120	9	21971147	missense variant	T/C;G	snv	4.7E-06		3
rs587780668	CDKN2A	0.925	0.120	9	21974796	start lost	GGCTCCATGCTGCTCCCCGCCGCC/-;GGCTCCATGCTGCTCCCCGCCGCCGGCTCCATGCTGCTCCCCGCCGCC	delins	1.5E-04		3
rs730881675	CDKN2A	0.925	0.200	9	21971106	frameshift variant	TCGTGCACGGGTCG/-	delins			3
rs754806883	CDKN2A	0.925	0.160	9	21971063	missense variant	C/A;G;T	snv	4.3E-06; 8.5E-06		3
rs758389471	CDKN2A	0.882	0.080	9	21971160	missense variant	C/G;T	snv	4.7E-06; 4.7E-06		3
rs774829510	CDKN2A	0.882	0.040	9	21971046	missense variant	C/A;T	snv			3
rs774904310	CDKN2A	0.925	0.080	9	21971055	frameshift variant	C/-	delins			3
rs876658534	CDKN2A	0.925	0.120	9	21971156	missense variant	GC/AA	mnv			3
rs878853646	CDKN2A	0.882	0.080	9	21971106	missense variant	C/A;T	snv	4.3E-06; 8.6E-06		3
rs878853650	CDKN2A	0.925	0.120	9	21974733	missense variant	A/G	snv			3
rs1034265990	CDKN2A	0.925	0.120	9	21971123	missense variant	G/A;T	snv	4.4E-06		2