DisGeNET - a database of gene-disease associations

List of associated variants

MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2, C1835044

Source: CLINVAR ×

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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
rs104894097	CDKN2A	0.807	0.240	9	21974757	missense variant	C/A;G;T	snv	1.7E-05; 1.3E-05		7
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
rs104894098	CDKN2A	0.851	0.200	9	21970982	missense variant	A/T	snv			4
rs104894099	CDKN2A	0.851	0.200	9	21971183	missense variant	A/C;T	snv	4.6E-06		4
rs104894095	CDKN2A	0.827	0.120	9	21971200	missense variant	C/G;T	snv	9.0E-06		3
rs104894109	CDKN2A	0.925	0.120	9	21971192	missense variant	C/A;T	snv			3
rs587780668	CDKN2A	0.925	0.120	9	21974796	start lost	GGCTCCATGCTGCTCCCCGCCGCC/-;GGCTCCATGCTGCTCCCCGCCGCCGGCTCCATGCTGCTCCCCGCCGCC	delins	1.5E-04		3
rs749714198	CDKN2A	0.882	0.200	9	21971100	missense variant	G/A	snv	8.6E-06	7.0E-06	3
rs878853647	CDKN2A	0.882	0.120	9	21971099	missense variant	C/G;T	snv			3
rs121913388	CDKN2A	0.925	0.040	9	21971121	stop gained	G/A;C	snv	4.4E-06		2
rs137854599	CDKN2A	0.882	0.080	9	21971093	missense variant	C/G;T	snv			2
rs387906410	CDKN2A	0.882	0.080	9	21971019	missense variant	GC/AG	mnv			2
rs587776716	CDKN2A	0.925	0.160	9	21971115	frameshift variant	CGGGTCGGGTGAGAGTGGC/-	del			2
rs876658534	CDKN2A	0.925	0.120	9	21971156	missense variant	GC/AA	mnv			2
rs878853650	CDKN2A	0.925	0.120	9	21974733	missense variant	A/G	snv			2
rs113798404	CDKN2A	0.925	0.080	9	21970995	missense variant	C/G;T	snv			1
rs137854597	CDKN2A	1.000		9	21971094	missense variant	C/T	snv	4.3E-06		1
rs587778189	CDKN2A	1.000		9	21974679	missense variant	T/A;C;G	snv	4.0E-06; 4.0E-06		1