DisGeNET - a database of gene-disease associations

Source: ALL

Variants associated to the Gene: CDKN2A ×

Results per page

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
rs1444669684	CDKN2B-AS1 ; CDKN2A	0.658	0.480	9	21994285	missense variant	C/A;T	snv			36
rs3731249	CDKN2A	0.683	0.320	9	21970917	missense variant	C/A;G;T	snv	2.1E-02		23
rs1057519883	CDKN2A	0.742	0.280	9	21971120	missense variant	C/G;T	snv			14
rs771138120	CDKN2A	0.827	0.120	9	21971191	missense variant	G/A;C;T	snv	9.1E-06; 4.5E-06		13
rs104894094	CDKN2A	0.763	0.200	9	21971058	missense variant	C/A;G;T	snv	8.5E-06; 4.3E-06		12
rs3088440	CDKN2A ; CDKN2A-DT	0.776	0.240	9	21968160	3 prime UTR variant	G/A	snv		0.13	12
rs3731217	CDKN2A	0.763	0.320	9	21984662	intron variant	A/C;T	snv			10
rs3731239	CDKN2A	0.763	0.240	9	21974219	intron variant	A/G	snv		0.26	10
rs121913385	CDKN2A	0.763	0.240	9	21971112	missense variant	G/A;C	snv			9
rs34968276	CDKN2A	0.776	0.240	9	21971110	stop gained	G/A;C;T	snv			9
rs104894097	CDKN2A	0.807	0.240	9	21974757	missense variant	C/A;G;T	snv	1.7E-05; 1.3E-05		8
rs1057519881	CDKN2A	0.776	0.240	9	21971111	missense variant	T/C	snv			8
rs104894104	CDKN2A	0.790	0.160	9	21971019	missense variant	G/A;T	snv			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			7
rs3731211	CDKN2A			9	21986848	intron variant	T/A	snv		0.74	7
rs104894095	CDKN2A	0.827	0.120	9	21971200	missense variant	C/G;T	snv	9.0E-06		6
rs121913387	CDKN2A	0.827	0.160	9	21971187	stop gained	G/A;C	snv	4.6E-06		6
rs1453633223	CDKN2A	0.807	0.080	9	21974503	missense variant	C/T	snv	4.0E-06		6
rs200863613	CDKN2A	0.925	0.080	9	21971061	missense variant	C/A;T	snv	8.5E-05	3.7E-04	6
rs11515	CDKN2A ; CDKN2A-DT	0.882	0.040	9	21968200	3 prime UTR variant	C/A;G	snv	4.0E-06; 0.88		6
rs104894098	CDKN2A	0.851	0.200	9	21970982	missense variant	A/T	snv			5
rs104894099	CDKN2A	0.851	0.200	9	21971183	missense variant	A/C;T	snv	4.6E-06		5
rs1289280947	CDKN2A	0.851	0.080	9	21974571	missense variant	C/T	snv	4.0E-06		5
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