DisGeNET - a database of gene-disease associations

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Gene

Disease

Variant

Source

DSI _v

DPI _v

pLI

Consequence

AF_EXOME

AF_GENOME

Variant	Gene	Chr	Position	Consequence	Alleles	Class	AF EXOME	AF GENOME	Num. diseases
rs3731211	CDKN2A	9	21986848	intron variant	T/A	snv		0.74	7
rs3731215	CDKN2A	9	21985772	intron variant	A/G	snv		1.2E-03	5
rs121913381	CDKN2A	9	21971037	missense variant	C/A;T	snv			3
rs3731199	CDKN2A	9	21989331	intron variant	T/C	snv		2.4E-03	2
rs3731236	CDKN2A	9	21976977	intron variant	G/A	snv		1.9E-03	2
rs1057519852	CDKN2A	9	21971030	stop gained	C/T	snv			1
rs1060501260	CDKN2A	9	21971156	missense variant	G/A;C	snv	4.7E-06		1
rs1060504185	CDKN2A	9	21971116	missense variant	G/A;C	snv			1
rs1131691188	CDKN2A	9	21974782	frameshift variant	-/C	delins			1
rs121913382	CDKN2A	9	21971178	stop gained	C/A;T	snv	4.6E-06		1
rs121913383	CDKN2A	9	21971154	stop gained	C/A	snv			1
rs121913389	CDKN2A	9	21971029	stop gained	C/T	snv			1
rs1277299943	CDKN2A	9	21974817	missense variant	G/C	snv	1.3E-05		1
rs1377159790	CDKN2A	9	21971203	start lost	C/T	snv	4.5E-06		1
rs1554653976	CDKN2A	9	21971015	frameshift variant	-/GGGC	delins			1
rs1554654224	CDKN2A	9	21971210	splice acceptor variant	T/C	snv			1
rs1554656253	CDKN2A	9	21974696	stop gained	G/A;C	snv			1
rs1554659198	CDKN2B-AS1 ; CDKN2A	9	21994212	frameshift variant	G/-	delins			1
rs200429615	CDKN2A	9	21971138	missense variant	T/G	snv			1
rs372670098	CDKN2A	9	21971153	missense variant	T/C	snv	9.5E-06	2.8E-05	1
rs45456595	CDKN2A	9	21974641	missense variant	C/G	snv	2.0E-03	2.1E-03	1
rs587782792	CDKN2A	9	21971108	missense variant	T/G	snv			1
rs7036656	CDKN2A	9	21990458	intron variant	C/T	snv		0.74	1
rs730881672	CDKN2A	9	21974781	protein altering variant	-/GCC	delins			1
rs730881677	CDKN2A	9	21971209	splice acceptor variant	C/A;G	snv			1