DisGeNET - a database of gene-disease associations

Source: UNIPROT

Variants associated to the Disease: Hereditary Melanoma ×

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
rs104894094	CDKN2A	0.763	0.200	9	21971058	missense variant	C/A;G;T	snv	8.5E-06; 4.3E-06		2
rs1064794292	CDKN2A	0.882	0.200	9	21974760	missense variant	C/T	snv			2
rs104894095	CDKN2A	0.827	0.120	9	21971200	missense variant	C/G;T	snv	9.0E-06		1
rs104894097	CDKN2A	0.807	0.240	9	21974757	missense variant	C/A;G;T	snv	1.7E-05; 1.3E-05		1
rs104894098	CDKN2A	0.851	0.200	9	21970982	missense variant	A/T	snv			1
rs104894099	CDKN2A	0.851	0.200	9	21971183	missense variant	A/C;T	snv	4.6E-06		1
rs199907548	CDKN2A	0.882	0.160	9	21974682	missense variant	A/C;G	snv	6.3E-04		1
rs749714198	CDKN2A	0.882	0.200	9	21971100	missense variant	G/A	snv	8.6E-06	7.0E-06	1
rs754806883	CDKN2A	0.925	0.160	9	21971063	missense variant	C/A;G;T	snv	4.3E-06; 8.5E-06		1
rs876658534	CDKN2A	0.925	0.120	9	21971156	missense variant	GC/AA	mnv			1
rs878853647	CDKN2A	0.882	0.120	9	21971099	missense variant	C/G;T	snv			1
rs878853650	CDKN2A	0.925	0.120	9	21974733	missense variant	A/G	snv			1