DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variants associated to the Gene: CDKN2A ×

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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
rs1057519883	CDKN2A	0.742	0.280	9	21971120	missense variant	C/G;T	snv			11
rs34968276	CDKN2A	0.776	0.240	9	21971110	stop gained	G/A;C;T	snv			9
rs1057519881	CDKN2A	0.776	0.240	9	21971111	missense variant	T/C	snv			8
rs121913385	CDKN2A	0.763	0.240	9	21971112	missense variant	G/A;C	snv			8
rs104894097	CDKN2A	0.807	0.240	9	21974757	missense variant	C/A;G;T	snv	1.7E-05; 1.3E-05		7
rs1057519882	CDKN2A	0.807	0.200	9	21974678	missense variant	C/A	snv			7
rs121913386	CDKN2A	0.807	0.120	9	21971018	missense variant	G/A;T	snv			6
rs104894094	CDKN2A	0.763	0.200	9	21971058	missense variant	C/A;G;T	snv	8.5E-06; 4.3E-06		6
rs1800586	CDKN2A	0.851	0.240	9	21974861	5 prime UTR variant	C/A;G;T	snv	4.3E-05; 6.1E-05; 8.7E-06		5
rs104894099	CDKN2A	0.851	0.200	9	21971183	missense variant	A/C;T	snv	4.6E-06		4
rs104894098	CDKN2A	0.851	0.200	9	21970982	missense variant	A/T	snv			4
rs104894104	CDKN2A	0.790	0.160	9	21971019	missense variant	G/A;T	snv			4
rs587780668	CDKN2A	0.925	0.120	9	21974796	start lost	GGCTCCATGCTGCTCCCCGCCGCC/-;GGCTCCATGCTGCTCCCCGCCGCCGGCTCCATGCTGCTCCCCGCCGCC	delins	1.5E-04		3
rs104894109	CDKN2A	0.925	0.120	9	21971192	missense variant	C/A;T	snv			3
rs45476696	CDKN2A	0.925	0.200	9	21970902	stop gained	C/A;T	snv			3
rs878853647	CDKN2A	0.882	0.120	9	21971099	missense variant	C/G;T	snv			3
rs730881675	CDKN2A	0.925	0.200	9	21971106	frameshift variant	TCGTGCACGGGTCG/-	delins			3
rs749714198	CDKN2A	0.882	0.200	9	21971100	missense variant	G/A	snv	8.6E-06	7.0E-06	3
rs104894095	CDKN2A	0.827	0.120	9	21971200	missense variant	C/G;T	snv	9.0E-06		3
rs121913388	CDKN2A	0.925	0.040	9	21971121	stop gained	G/A;C	snv	4.4E-06		2
rs121913387	CDKN2A	0.827	0.160	9	21971187	stop gained	G/A;C	snv	4.6E-06		2
rs121913381	CDKN2A			9	21971037	missense variant	C/A;T	snv			2
rs864622636	CDKN2A	1.000	0.120	9	21974680	stop gained	G/A;T	snv			2
rs730881674	CDKN2A	1.000	0.120	9	21971116	frameshift variant	GTGAGAGTGGCGGGGTCGG/-	delins			2
rs876658534	CDKN2A	0.925	0.120	9	21971156	missense variant	GC/AA	mnv			2