DisGeNET - a database of gene-disease associations

List of associated variants

Chronic Lymphocytic Leukemia, C0023434

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
rs113488022	BRAF	0.351	0.840	7	140753336	missense variant	A/C;G;T	snv	4.0E-06		22
rs121913377	BRAF	0.354	0.840	7	140753335	missense variant	CA/AT;TT	mnv			2
rs1131691014	TP53	0.439	0.800	17	7676154	frameshift variant	-/C	ins			1
rs1799945	LOC108783645 ; HFE	0.452	0.760	6	26090951	missense variant	C/G;T	snv	0.11	0.10	8
rs77375493	INSL6 ; JAK2	0.458	0.760	9	5073770	missense variant	G/A;T	snv	3.5E-04		10
rs662	PON1	0.485	0.840	7	95308134	missense variant	T/C	snv	0.38	0.42	3
rs121913529	KRAS	0.492	0.680	12	25245350	missense variant	C/A;G;T	snv	4.0E-06		19
rs854560	PON1	0.513	0.800	7	95316772	missense variant	A/C;G;N;T	snv	0.29		3
rs2010963	VEGFA	0.542	0.840	6	43770613	5 prime UTR variant	C/G	snv		0.68	1
rs28934576	TP53	0.554	0.600	17	7673802	missense variant	C/A;G;T	snv	4.0E-06; 1.6E-05		39
rs11554290	NRAS	0.583	0.600	1	114713908	missense variant	T/A;C;G	snv			25
rs121913530	KRAS	0.583	0.640	12	25245351	missense variant	C/A;G;T	snv			11
rs20541	IL13 ; TH2LCRR	0.585	0.720	5	132660272	missense variant	A/G	snv	0.72	0.77	2
rs11540652	TP53	0.592	0.640	17	7674220	missense variant	C/A;G;T	snv	1.2E-05		42
rs121912651	TP53	0.605	0.680	17	7674221	missense variant	G/A;C	snv	4.0E-06		37
rs104894228	LRRC56 ; HRAS	0.605	0.560	11	534286	missense variant	C/A;G;T	snv			30
rs28934578	TP53	0.605	0.600	17	7675088	missense variant	C/A;T	snv	4.0E-06		16
rs121913343	TP53	0.611	0.520	17	7673803	missense variant	G/A;C;T	snv	1.2E-05		29
rs121913237	NRAS	0.611	0.560	1	114716126	missense variant	C/A;G;T	snv	8.0E-06		12
rs121913233	HRAS ; LRRC56	0.627	0.520	11	533874	missense variant	T/A;C;G	snv			20
rs10936599	MYNN	0.637	0.600	3	169774313	synonymous variant	C/T	snv	0.29	0.21	1
rs121913364	BRAF	0.641	0.520	7	140753334	missense variant	T/C;G	snv	4.0E-06		14
rs1057519695	NRAS	0.641	0.520	1	114713907	missense variant	TT/CA;CC	mnv			1
rs760043106	TP53	0.645	0.440	17	7674947	missense variant	A/C;G;T	snv			18
rs104894226	LRRC56 ; HRAS	0.658	0.560	11	534285	missense variant	C/A;G;T	snv			23