DisGeNET - a database of gene-disease associations

List of associated variants

Leukemia, Myelomonocytic, Chronic, C0023480

Source: UNIPROT ×

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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
rs121913530	KRAS	0.583	0.640	12	25245351	missense variant	C/A;G;T	snv			5
rs77375493	INSL6 ; JAK2	0.458	0.760	9	5073770	missense variant	G/A;T	snv	3.5E-04		3
rs121913506	KIT	0.677	0.320	4	54733154	missense variant	G/A;C;T	snv			2
rs121913507	KIT	0.614	0.400	4	54733155	missense variant	A/T	snv			2
rs121913237	NRAS	0.611	0.560	1	114716126	missense variant	C/A;G;T	snv	8.0E-06		2
rs569067880	TET2-AS1 ; TET2	0.925	0.080	4	105234864	missense variant	G/A;C	snv	4.0E-06; 4.0E-06		2
rs147001633	DNMT3A	0.776	0.240	2	25234373	missense variant	C/A;G;T	snv	4.0E-06; 4.0E-06; 2.2E-04		1
rs377577594	DNMT3A	0.827	0.240	2	25234374	missense variant	G/A;C;T	snv	1.2E-04; 8.0E-06		1
rs761064473	DNMT3A	1.000	0.080	2	25240717	missense variant	C/G;T	snv	1.2E-05		1
rs1554481435	EZH2	1.000	0.080	7	148809351	missense variant	C/T	snv			1
rs61752717	MEFV	0.583	0.840	16	3243407	missense variant	T/A;C	snv	2.8E-04		1
rs114619974	TET2-AS1 ; TET2	1.000	0.080	4	105234376	missense variant	G/A	snv	5.2E-04	2.2E-03	1
rs1283441077	TET2-AS1 ; TET2	1.000	0.080	4	105276331	missense variant	C/T	snv	6.4E-06		1
rs1316795626	TET2-AS1 ; TET2	1.000	0.080	4	105276287	missense variant	G/A	snv	6.4E-06		1
rs532738858	TET2-AS1 ; TET2	1.000	0.080	4	105236763	missense variant	C/T	snv	1.2E-05	2.1E-05	1
rs116519313	TET2 ; TET2-AS1	1.000	0.080	4	105276128	missense variant	T/C;G	snv	1.3E-05		1
rs1406914931	TET2 ; TET2-AS1	1.000	0.080	4	105276431	missense variant	G/T	snv			1
rs376570662	TET2 ; TET2-AS1	1.000	0.080	4	105235321	missense variant	C/T	snv	1.2E-04	1.7E-04	1
rs749210253	TET2 ; TET2-AS1	1.000	0.080	4	105272630	missense variant	G/A;T	snv	3.8E-05; 6.4E-06		1
rs754215085	TET2 ; TET2-AS1	1.000	0.080	4	105276407	missense variant	G/A	snv	5.7E-05	1.4E-05	1
rs771761785	TET2 ; TET2-AS1	1.000	0.080	4	105243757	missense variant	G/A;C	snv	6.4E-06		1
rs371246226	U2AF1	0.827	0.160	21	43094667	missense variant	T/C;G	snv	2.4E-05; 2.4E-05		1
rs371769427	U2AF1	0.683	0.400	21	43104346	missense variant	G/A;T	snv	8.0E-06		1